tag:blogger.com,1999:blog-65944471333719405142024-03-06T12:01:20.108-08:00Muscular Dystrophy Awareness of Kenya-MDAKmusculardystrophykenya@gmail.com
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.comBlogger41125tag:blogger.com,1999:blog-6594447133371940514.post-56961686850394042162015-08-27T01:49:00.001-07:002015-09-14T01:54:45.360-07:00EDAN pushes for Kenya's implementation of Disabilities Rights Convention<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">GENEVA, Switzerland, August 24, 2015/African
Press Organization (APO)/ -- Despite significant steps taken by the Kenyan
government, coordinator of the World Council of Churches (WCC) Ecumenical
Disability Advocates Network (EDAN) Dr Samuel Kabue says that “more needs to be
done” so that people with disability can enjoy their rights.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">“They must have access to inclusive and viable
environment, sign language support, feasible transport, communication, legal
capacity, health care and employment, among other rights,” he reports.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">Kabue adds that people with disability speak
about their rights from an experiential point of view: “This point of view may
not be the same as the government's, which mostly implies that all is fine.”<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">Kabue shared these reflections in an interview
following his participation in a session of the Committee on the Rights of
Persons with Disabilities (CRPD) which concluded its consideration of the
initial report of the Kenyan government on its implementation of the Convention
on the Rights of Persons with Disabilities on 19 August in Geneva, Switzerland.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">The Kenyan state ratified the Convention in
May 2008, among the early ones to do so. The Convention has been been ratified
by 157 states as of the end of Geneva meeting this month.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">According to Kabue, the National Council of
Churches of Kenya has been instrumental in raising awareness on disability
issues. However, he feels that in order to make a stronger impact, churches
need to engage with the Convention for an effective implementation.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">“If the churches enhance their understanding
of the Convention, they will be able to advocate more strongly for the rights
of people with disability,” said Kabue. This is one theme, he explained, that
was discussed in an elaborate dialogue side-event organized by the EDAN and
other civil society organizations that was held during the 14th Session of the
CRPD Committee of Experts in Geneva.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">Kabue shared that a number of significant
topics were addressed at the CRPD Committee of Experts session, including
issues related to men, women and children with disabilities; persons with
albinism; legal capacity; accessibility both in public transport and
facilities; refugees and migrant workers with disabilities; inclusion of
persons with disabilities in policy-making processes; multiple discrimination
and inter-sectional disabilities.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">Kabue said that in Kenya, among other
countries, EDAN is working with other disability organizations in pushing for
an effective implementation of the Convention on the Rights of Persons with
Disabilities. He explained that EDAN was among the influential “non-state
actors” whose participation in the CRPD was facilitated by the International
Disability Alliance.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";"><br /></span></div>
<div class="MsoNormal">
<span style="color: #333333; font-family: "Arial","sans-serif"; font-size: 14.0pt; mso-fareast-font-family: "Times New Roman";">Established in 1998, EDAN, along with churches
and its partner organizations, addresses the issues affecting persons with
disabilities globally, advocating for the inclusion, participation, and active
involvement of persons with disabilities in the spiritual, social and
development life of the church and society.<o:p></o:p></span></div>
<br />
<div class="MsoNormal">
<span style="font-size: 14.0pt;"><br /></span></div>
<div class="MsoNormal">
<span style="font-size: 14.0pt;">Article provided by World Council
of Churches (WCC) via Mordern Ghana.<o:p></o:p></span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-8309551777383590472015-08-04T12:24:00.003-07:002015-08-04T12:24:50.214-07:00Kimbowa offers life lessons to many who take things for granted by Diana Nabiruma<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; font-size: 15px; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Joseph Kimbowa, 23, remembers running around Villa Maria, Masaka, chasing after an old bicycle tyre.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
With a stick, he would push the tyre and run until his little, sturdy legs were exhausted. His legs were sturdy, he emphasises. He would look at them and they reminded him of a footballer’s.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
His arms were bulky too, like a body-builders. He maximised his athletic frame. Other than chasing after bicycle tyres, he played football and engaged in athletics.<br /><br /><strong>BEGINNINGS OF MUSCULAR DYSTROPHY</strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
But then, mysteriously, his strong beautiful legs started to betray him.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“I would fall whenever I would attempt to run,” he says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
His family was concerned. Why would a seemingly strong and healthy boy fall while running? He said he felt that his muscles were weaker, and could not properly support him. But he could still run small distances at slow speeds, couldn’t he?</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
He couldn’t. Doctors and herbalists were consulted and he received various treatments.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“They didn’t help me. I only started to feel worse. My bones were aching, alongside with me feeling increasingly weak.”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
He soon dropped out of school. Little schoolboys thought his yet-to-be diagnosed condition was funny. They pushed him so he could fall, to their delight.<br />Kimbowa was not happy with their behaviour; so, he dropped out of school.<br /><br /><strong>DIAGNOSED IN KAMPALA</strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
A nun, wondering why Kimbowa was out of school, was told he was ill. She sponsored his trip to Kampala, where he was diagnosed with muscular dystrophy. His sister, Joslyn Nambatya, weeps when she talks about the doctor at Chesire Home, Katalemwa who hinted at serious trouble.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“When we got to Katalemwa, he [Kimbowa] was happy. He saw children being fitted with metals in their legs and said ‘I am going to be fine, baaba [big sister]. I will get those metals and I will be fine’,” Nambatya recalls.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
The doctor, however, suspecting muscular dystrophy, said that Kimbowa might never be cured and he would likely die a young man.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“He was speaking English and I didn’t think he [Kimbowa] understood him. But when we left, he was sad, saying that he had heard the doctor say he would never be healed,” Nambatya says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
She breaks down sobbing, nine years after being told her brother would never heal.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“Please call me back later,” she requests between sobs.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
When called later, Nambatya, a mother of two, worriedly asks: “Do you think my son will get muscular dystrophy?”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
She pauses, as if she is chewing on some unpleasant information.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“I was told that the condition is passed from mothers to their sons. That us [girls] we are carriers. But the boys! They suffer. I have a son and daughter. I wonder whether my son is safe.”<br /><br /><strong>MUSCULAR DYSTROPHY</strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Dr Justus Byarugaba, a paediatrician and nuero-physician who has worked with Nakasero hospital, confirmed Kimbowa’s muscular dystrophy. He asked to study Kimbowa’s family as Kimbowa has maternal cousins with the disease.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“He wanted to do biopsies but I had been advised against them. I refused. I took my brother to Kampala School of the Physically Handicapped thereafter,” Nambatya says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
UK’s National Health Services (NHS) defines muscular dystrophy as “a group of inherited genetic conditions that gradually cause the muscles to weaken.”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Seven types of muscular dystrophy, including duchenne, myotonic, facioscapulohumeral, Becker, limb-girdle muscular dystrophy, oculopharyngeal and Emery-Dreifuss, are listed by the organisation’s website.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
The condition is caused by mutation of genes “responsible for the structure and functioning of a person’s muscles. These mutations cause changes in the muscle fibres that interfere with the muscles’ ability to function. Over time, this causes increasing disability,” the website says. </div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Nambatya’s fears for her son’s vulnerability are not far fetched.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“Muscular dystrophy is often inherited from parents,” Dr Enoch Kawalya of CORSU, a facility that treats disabilities, says. “I recently saw a whole family [of boys] with the condition.”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
One prominent pastor’s sons are all said to have died as a result of Duchene muscular dystrophy. As this story might have shown, boys seem to be more affected by Duchene muscular dystrophy, which is sex-linked.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
According to the NHS, this is because “females have two copies of the X chromosome [and] they are less likely to develop an X-linked condition because the normal copy of the chromosome [from the parent without muscular dystrophy] can usually compensate for the altered version.”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Muscular dystrophy is said to be uncommon in Uganda.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“We see one to two patients with muscular dystrophy every three weeks,” Kawalya says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Duchene muscular dystrophy, which Kimbowa suffers from and is said to be the commonest, is symptomised by difficulty in walking, running or jumping, difficulty in standing up, learning to speak later than usual, being unable to climb the stairs without support and having behavioural or learning difficulties.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Bulkier frames, like Kimbowa’s, could also be seen in muscular dystrophy. All types of muscular dystrophy are progressive and incurable in nature, but Duchene muscular dystrophy is said to be the most severe, putting its sufferers in wheelchairs between the ages of eight and 14.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<strong><br /></strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<strong>EARLY DEATH</strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Kimbowa’s muscular dystrophy has progressed to a point that he can no longer turn himself in bed or dress himself. His parents, who are shopkeepers, pay a minder to help him with bathing, dressing and perform other chores.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“They [children with Duchene muscular dystrophy] die a lot. We have lost four since I joined this school in 2006,” Proscovia Kajubi, a teacher at Kampala School of the Physically Handicapped, says. Kajubi taught Kimbowa.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Duchene muscular dystrophy results in damage of the lungs and heart and “once the heart and respiratory muscles are damaged, Duchene MD becomes life-threatening. With medical care, most people with Duchene MD die from heart or respiratory failure before or during their 30s,” nhs.uk says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Muscular dystrophy is treated with physiotherapy and other interventions. Kajubi says they encourage sporting activities such as swimming, seat-volleyball and seat-ball, among others, so that the children still in school do not get depressed.<br /><br /><strong>HOPES AND MISCONCEPTIONS</strong></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“Sometimes I get hope that it can be cured. Do you think those pastors can help?” Kimbowa asks me in a tired voice.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Knowing what I do about muscular dystrophy, I only grunt. There is a pause in the conversation, where thoughts are rearranged. Kimbowa is the first to speak.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2-yeqjg8OnS4j17-Jl3pJlM4Jo35xRR7JidFgbmsvuzfywCdh9_yg6gDvo9VoNcSXx_BNUjMLYupLTujsPkklFW5Mbk-3_szolqzZ7zslvdL0P59tha7oZSUCWKPOWJKdVoVHoFJA1gjE/s1600/Kimbowa-cant-use-his-hands-or-legs.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2-yeqjg8OnS4j17-Jl3pJlM4Jo35xRR7JidFgbmsvuzfywCdh9_yg6gDvo9VoNcSXx_BNUjMLYupLTujsPkklFW5Mbk-3_szolqzZ7zslvdL0P59tha7oZSUCWKPOWJKdVoVHoFJA1gjE/s320/Kimbowa-cant-use-his-hands-or-legs.jpg" width="163" /></a>“You know, for some people the disease is a curse,” he says thoughtfully.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Spiritually, that could make sense, but science disagrees. The disease is a result of gene mutations. </div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Then Kimbowa speaks about his dreams.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“If I were somewhere abroad, my life would be better. But for now, I think about settling in Kampala. That is where most of my friends are.”</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
Kimbowa repairs mobile phones. When I first met him in 2011, he hoped to fulfill this dream and he has. Repairing phones is easiest for him, because they are light and he can lift them. He is seeking sponsors to help him attain training in mobile phone repairs.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
He can be reached on 0757112101or on 0784617959. But you have to be patient. It takes him extraordinary effort to pick his mobile phone up when it rings.<br />Sigh! The things we do take for granted!</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
<br /></div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
The conversation turns to children. Would he want any? He brightens up for the first time in the 41-minute interview.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
“I always think about that. But it is not easy to be patient with someone like me. I have tried to talk to some girls. But it is not easy,” Kimbowa says.</div>
<div style="background-color: white; color: #4d4d4d; font-family: Arial, Helvetica, sans-serif; line-height: 22.5px; margin-bottom: 5px; margin-top: 5px; padding: 0px; text-align: justify;">
You can feel the smile in his voice. I tell him that it is not easy for most boys and men without his condition. Kimbowa laughs and we say our goodbyes.<br /><br /><span id="cloak97738" style="font-size: 15px;"><a href="mailto:dnabiruma@observer.ug" style="color: #3498db; outline: none; text-decoration: none;"><br /></a></span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-59606268111367895642015-08-03T03:17:00.000-07:002015-08-03T04:00:29.575-07:00IMPORTANCE OF RESPIRATORY CARE<span style="font-size: large;">Taking care of our respirator system is very important especially when you have a neuromuscular condition which progressively wastes and weakens the muscles. This is so because it can affect your breathing making it hard for one to breath normally and cause discomfort while coughing.</span><br />
<span style="font-size: large;"><br /></span>
<span style="font-size: large;">According to Muscular dystrophy Canada site on respiratory care (http://www.muscle.ca/living-with-muscular-dystrophy/respiratory-care/) these are the symptoms one should look out for to know if you have respiratory complications due to MD:</span><br />
<br />
<ul>
<li><span style="font-size: large;">Sleeping more often</span></li>
<li><span style="font-size: large;">Constant fatigue</span></li>
<li><span style="font-size: large;">Occasional confusion</span></li>
<li><span style="font-size: large;">Difficulty concentrating</span></li>
<li><span style="font-size: large;">Muscle twitching that previously did not exist</span></li>
<li><span style="font-size: large;">Constant or periodic headache</span></li>
<li><span style="font-size: large;">Significant shortness of breath at rest</span></li>
<li><span style="font-size: large;">Difficulty sleeping or lying down</span></li>
<li><span style="font-size: large;">Unconsciousness or difficulty waking up</span></li>
</ul>
<div>
<span style="font-size: large;">It is important to keep monitoring yourself and let your doctor know of the changes you feel in your body for proper care and treatment. Self advocacy is key to avoid complications that can become life threatening.</span><br />
<span style="font-size: large;"><br /></span>
<span style="font-size: large;">For people living with DMD breathing may become difficult during the day and they will be required to use a ventilator to breath. The lungs become weaker as the condition progresses and preventing infections of the lungs such as pneumonia is vital. It is also advisable to get pneumonia vaccination.</span><br />
<span style="font-size: large;"><br /></span>
<span style="font-size: large;">A cough assist can also help people with MD cough well when they have a cold or infection.</span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-41956064553658629962015-07-22T06:57:00.001-07:002015-07-22T06:57:03.539-07:00DARE TO BUST A MOVE FOR LGMD AWARENESS00<br /><br />
0<iframe allowfullscreen="" frameborder="0" height="344" src="https://www.youtube.com/embed/brutIU6wkMc" width="459"></iframe>LGMD Awareness Day Dare to bust a move challenge.<br /><br />
<a name='more'></a>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-56862691795910805672015-07-14T08:38:00.003-07:002015-07-14T08:38:37.622-07:00Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages<div class="jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, allHeadingLevels: ['h2'], headingExclude: ':hidden'" style="font-family: 'Times New Roman', stixgeneral, serif; font-size: 19.9988746643066px; line-height: 27.4984531402588px;">
<div class="fm-sec half_rhythm no_top_margin" style="font-family: arial, helvetica, clean, sans-serif; font-size: 0.8125em; font-stretch: normal; line-height: 1.3846; margin: 0px 0px 0.6923em;">
<h1 class="content-title" style="font-size: 1.3846em; line-height: 1.5; margin: 1em 0px 0.5em;">
<span style="font-size: 0.8125em; line-height: 1.3846;">This infomation has not been altered in anyway and is meant to provide information to all living with LGMD. This is the original version as it appears in: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/</span></h1>
<div class="half_rhythm" style="margin: 0.6923em 0px;">
<div class="contrib-group fm-author">
<a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=SICILIANO%20G%5Bauth%5D" style="color: #642a8f;">GABRIELE SICILIANO</a>,<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;"><img alt="corresponding author" src="http://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/corrauth.gif" style="border: 0px; max-width: 100%;" /></span><span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;"></span><span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">1</span> <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=SIMONCINI%20C%5Bauth%5D" style="color: #642a8f;">COSTANZA SIMONCINI</a>,<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">1</span> <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=GIANNOTTI%20S%5Bauth%5D" style="color: #642a8f;">STEFANO GIANNOTTI</a>,<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">2</span> <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=ZAMPA%20V%5Bauth%5D" style="color: #642a8f;">VIRNA ZAMPA</a>,<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">3</span> <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=ANGELINI%20C%5Bauth%5D" style="color: #642a8f;">CORRADO ANGELINI</a>,<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">4</span> and <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=RICCI%20G%5Bauth%5D" style="color: #642a8f;">GIULIA RICCI</a><span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">1</span></div>
</div>
<div class="fm-panel small half_rhythm" style="font-size: 0.8461em; line-height: 1.6363em; margin: 0.6923em 0px;">
<div class="togglers">
<a class="pmctoggle" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" rid="id620377_ai" style="color: #642a8f;">Author information ►</a> <a class="pmctoggle" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" rid="id620377_cpl" style="color: #642a8f;">Copyright and License information ►</a></div>
<div class="fm-article-notes fm-panel half_rhythm" style="margin: 0.6923em 0px;">
</div>
</div>
</div>
<div class="sec" style="clear: both;">
</div>
<div class="tsec sec" id="__abstractid929634" lang="en" style="clear: both; display: none;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<span role="menubar"><a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="menuitem" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></span></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="__abstractid929634title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Abstract</h2>
<div>
<div class="p p-first-last" id="__p1" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary lifestyle due to the motor impairment. It has been debated for many years whether or not muscle exercise is beneficial or harmful for patients with myopathic disorders. In fact, muscular exercise would be considered in helping to hinder the loss of muscle tissue and strength. On the other hand, muscle structural defects in LGMD can result in instability of the sarcolemma, making it more likely to induce muscle damage as a consequence of intense muscle contraction, such as that performed during eccentric training. Several reports have suggested that supervised aerobic exercise training is safe and may be considered effective in improving oxidative capacity and muscle function in patients with LGMD, such as LGMD2I, LGMD2L, LGMD2A. More or less comfortable investigation methods applied to assess muscle function and structure can be useful to detect the beneficial effects of supervised training in LGMD. However, it is important to note that the available trials assessing muscle exercise in patients with LGMD have often involved a small number of patients, with a wide clinical heterogeneity and a different experimental design. Based on these considerations, resistance training can be considered part of the rehabilitation program for patients with a limb-girdle type of muscular dystrophy, but it should be strictly supervised to assess its effects and prevent possible development of muscle damage.</div>
</div>
<div class="sec" style="clear: both;">
<strong class="kwd-title">Key words: </strong><span class="kwd-text">limb girdle muscle dystrophies, muscle fatigue, muscle exercise</span></div>
</div>
<div class="tsec sec" id="S1" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="S1title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Introduction</h2>
<div class="p p-first-last" id="__p2" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In limb girdle muscular dystrophies (LGMD), different genetic mutations, through distinct pathogenic mechanisms, determine a failure of muscle fibers in maintaining their physical structure during contraction, leading to sarcolemma breakdown, progressive muscle fibers degeneration and strength loss. Depending on that, exercise tolerance is affected in patients with LGMD, either as a direct consequence of loss of muscle fibers, but also secondary to the sedentary lifestyle due to the motor impairment. However, the cellular mechanisms that triggers skeletal muscle dysfunction and, ultimately, leads to muscle necrosis is still unclear, and available therapies are consequently inadequate.</div>
</div>
<div class="tsec sec" id="S2" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="S2title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Pathophysiology of fatigue and exercise intolerance in muscular dystrophies</h2>
<div class="p p-first" id="__p3" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Muscular dystrophies are genetic muscle diseases characterized by a progressive loss of motor unit constituents, due to different degeneration mechanisms, and by a wide range of phenotypes. Like dystrophinopathies (Duchenne and Becker muscular dystrophy, DMD, BMD), the majority of LGMD, that result from mutations in genes encoding specific structural protein, are prototypes of failure of the muscle fiber to maintain its physical structure during contraction, leading to sarcolemma breakdown, myofiber degeneration and necrosis.</div>
<div id="__p4" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
As a consequence, more than 60% of dystrophic patients experiences severe fatigue as a common and precocious symptom of disease manifestation. Muscle fatigue occurs when the intended physical activity can no longer be continued or is perceived as excessive effort and discomfort, depending on the interaction between the required force, the maximum force that the myofiber produces, as well as its endurance, also defined as fatigue resistance. At molecular level, although the loss of skeletal muscle mass accompanying the dystrophic process may be considered as a pathogenic factor in reduced muscle force generation in LGMD, several other and often interconnected mechanisms, as excitationcontraction coupling or energy breakdown, are involved in the genesis of muscle fatigue. However, the exact mechanism of the progressive muscle fibers necrosis in muscular dystrophies is still unknown, as well as the role of energy production in the cascade of events ending with muscle fiber degeneration. Related to that, evidence that the tricarboxylic acid cycle and some reactions in glycolysis are dependent on the integrity of cytoskeletal organization may suggest a role for defective energy metabolism in muscle fiber degeneration. In the clinical setting, a careful analysis of the muscle function is important to characterize the "phenomic" of muscle force impairment and fatigue in muscular dystrophies and to design outcome measures and optimal strategies to treat patients with decreased fatigue resistance (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R01" id="__tag_457767321" rid="R01" role="button" style="color: #642a8f;">1</a>).</div>
<div id="__p5" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
A better knowledge of the muscle metabolic changes during exercise may be useful in understanding the role energy utilization plays in contractile insufficiency and pathogenic mechanisms. For these purposes, 31Phosphorus (31P) magnetic resonance spectroscopy (MRS) may be used to study skeletal muscle metabolism<em>in vivo</em>. The technique has become an important tool in the study of the pathophysiology of muscle diseases. 31P-MRS is used for providing information about the biochemical composition and metabolism of tissue without invasive sampling, and it has the unique ability to measure intracellular pH. Given that MRS is well tolerated and examinations are easily repeated, it may also be applied in longitudinal studies of disease progression or outcomes. Interestingly, studies performed by muscle 31P-MRS have shown significant differences in several metabolite ratios in dystrophic patients indicating a lower energy state (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R02" id="__tag_457767339" rid="R02" role="button" style="color: #642a8f;">2</a>). In particular, the reduced cytosolic acidification during exercise suggests a defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. A recent work performed by our group studied the exercise-related muscle metabolism in mildly affected BMD patients assessed by muscle 31P-MRS during an incremental workload. We observed that BMD patients, compared with normal controls, showed downregulation of resting pH and intramuscular membrane breakdown, an increased anaerobic metabolism during sustained submaximal contraction and the maintenance of oxidative function during recovery (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R03" id="__tag_457767345" rid="R03" role="button" style="color: #642a8f;">3</a>).</div>
<div id="__p6" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Lodi and coworkes in 1997 (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R04" id="__tag_457767323" rid="R04" role="button" style="color: #642a8f;">4</a>) used MR imaging and 31P-MRS to study skeletal muscle in seven patients with LGMD with a variable deficiency of the alpha- (D), beta- (E), and gamma- (C) sarcoglycan but normal dystrophin expression on muscle biopsy. In LGMD patients, the authors observed that calf muscle phosphorylated compound content did not differ from controls, but the cytosolic pH was increased. Notably, the degree of calf muscle fat replacement inversely correlatedwith cytosolic pH and directly with phosphocreatin/adenosine triphosphate (PCr/ATP). Muscle oxidative metabolism was normal in LGMD2-C,- D,-E patients. The authors concluded that primary deficits of sarcoglycan complex lead to specific morphological and metabolic patterns of skeletal muscle involvement. In a recent study, we assessed exercise-related muscle metabolism by muscle 31P-MRS during an incremental workload in 10 mildly affected LGMD2A (6 males, 4 females, mean age 31.4 ± 9.5) patients and 3 LGMD2B patients, and 20 healthy controls (unpublished data). The incremental workload exercise test consisted of isometric intermittent plantar flexions of the dominant leg through an MR-compatible ergometer. Test normalization was obtained with reference to individual isometric maximal voluntary contraction (MVC), a valuable force indicator in contracting muscles. The inmagnet exercise protocol was made up of an incremental workload starting from 20% of the mean MVC (re-measured at rest 1 hour before the examination) and progressively increased by 10% MVC every 30 seconds until the subject's exhaustion (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R03" id="__tag_457767314" rid="R03" role="button" style="color: #642a8f;">3</a>). 31P MRS data were acquired from calf muscles. At rest, LGMD-2A and -2B subjects had a significantly higher cytosolic pH (p < 0.03), an increase in phosphodiesters (PDE), as markers of membrane rupture, and adenosine diphosphate (ADP) (p < 0.02), while they showed a reduction of phosphocreatine (PCr) (p < 0.01) compared with controls. No significant differences were found in mean values of metabolic variables during exercise between LGMD subjects and controls, while, at the end of exercise, PCr recovery rate in PGMD2A was significantly reduced (p < 0.02) in comparison with LGMD2B subjects and healthy controls, suggesting an alteration of oxidative metabolism.</div>
<div id="__p7" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
However, when considering metabolic pathway related to fatigue in muscular dystrophies, reports have shown that lactic acid does not have always a deleterious influence on muscle contraction and it does not cause muscle fatigue. In fact, althought the reduced intracellular pH may alter muscle performance, given that the glycogen storage is more rapidly depleted when consumed anaerobically, producing lactic acid, it is also likely that its deleterious effects have been overestimated (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R05" id="__tag_457767326" rid="R05" role="button" style="color: #642a8f;">5</a>).</div>
<div id="__p8" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Alternatively, it has been proposed that the effects of ionic changes, i.e. the changes in the homeostasis of Ca2+ and reactive oxygen species (ROS) in the myoplasm, cause muscle fatigue.</div>
<div id="__p9" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Failure in calcium release is one of the major contributor to fatigue. Sarcoplasmic reticulum (SR) Ca<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">2+</span> stores decline during fatigue. It has been demonstrated that the increased inorganic phosphate (Pi) affect fatigue development by acting on SR Ca<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">2+</span> handling, by reducing cross-bridge force and the Ca<span style="font-size: 0.8461em; line-height: 1.6363em; position: relative; top: -0.5em; vertical-align: baseline;">2+</span> sensitivity of the myofilaments, with secondary early drop in force (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R01" id="__tag_457767315" rid="R01" role="button" style="color: #642a8f;">1</a>). According to the "Ca2+ precipitation theory", if Pi goes into the SR during fatigue, this can result in Ca-Pi precipitation and decrease of the Ca2+ available for release.</div>
<div id="__p10" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
There is also a growing literature that indicates the "oxidative stress" as major source of signal pathway in the generation of muscle fatigue (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R06" id="__tag_457767316" rid="R06" role="button" style="color: #642a8f;">6</a>, <a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R07" id="__tag_457767319" rid="R07" role="button" style="color: #642a8f;">7</a>). The superoxide anion (O2•–) is one of the major reactive oxygen species (ROS). In addition, O2•– reacts with nitrogen oxide (NO), with the production of peroxynitrite (ONOO–), a reactive nitrogen species (RNS). Muscle contraction requires a large amount of ATP. The majority of ATP is produced by mitochondrial oxidative phosphorylation (OXPHOS); during exercise, mitochondria utilize an amount of O2 which is up to 100-fold higher than the one used during resting. The high rate of O2 consumption in skeletal muscles determines also an electron dispersion from the electron transfer chain during OXPHOS, with secondary generation of O2•– (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R08" id="__tag_457767313" rid="R08" role="button" style="color: #642a8f;">8</a>). ROS/RNS production in muscles causes oxidative stress that is dangerous for cellular DNA, proteins and lipids. ROS have been identified as endogenous mediators of muscle fatigue, highlighting the importance to develop antioxidants as therapeutic interventions for fatigue treatment (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R08" id="__tag_457767337" rid="R08" role="button" style="color: #642a8f;">8</a>).</div>
<div class="p p-last" id="__p11" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
The nitric oxide (NO) pathway has also been implicated in the genesis of muscle fatigue in muscular dystrophies. NO synthesized from L-arginine catalyzed by NO synthase is a widespread biological mediator with many functions, including cell signaling and protection from reactive oxygen intermediate superoxide. Loss of normal NO production in dystrophic muscle is expected to have a broad, disruptive effect on muscle function (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R09" id="__tag_457767330" rid="R09" role="button" style="color: #642a8f;">9</a>). Neuronal nitric oxide synthase (nNOS) is a key muscle enzyme in the production of NO, that is involved n the regulation of vasorelaxation and muscle blood supply. NOS is associated with dystrophin-associated protein complex at the sarcolemmal level, where it provides stability to the myofiber membrane during contraction. In the absence of dystrophin, as observed in dystrophinopathies, the concentration of NOS at the cell membrane and in the cytoplasm decreases, and the concentration of NOS mRNA is also reduced (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R10" id="__tag_457767322" rid="R10" role="button" style="color: #642a8f;">10</a>). It has been hypothesized, both in mdx mice and boys with Duchenne muscular dystrophy (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R11" id="__tag_457767342" rid="R11" role="button" style="color: #642a8f;">11</a>-<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R13" id="__tag_457767331" rid="R13" role="button" style="color: #642a8f;">13</a>), that the displacement and the secondary loss of nNOS and abnormalities in the levels of its expression in muscle significantly contribute to fatigue by inducing muscle ischemia during contraction. Interestingly, nNOSnull mice display a specific deficit in adapting to exercise and develop profound fatigue upon repeated muscle contraction (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R14" id="__tag_457767324" rid="R14" role="button" style="color: #642a8f;">14</a>). nNOS levels were also reduced in other genetic forms of muscle disease, including those resulting from defects in extracellular matrix proteins laminin a2 and collagen VI. Mutations in dysferlin are also shown to be characterized by reduced levels of nNOS. Loss of the sarcoglycan–sarcospan complex in muscle, as observed in sarcoglicanopathies, causes a reduction in the levels of nNOS expression at the membrane, even in the presence of normal dystrophin expression (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R15" id="__tag_457767317" rid="R15" role="button" style="color: #642a8f;">15</a>).</div>
</div>
<div class="tsec sec" id="S3" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="S3title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Effects of exercise training in muscular dystrophies</h2>
<div class="p p-first" id="__p12" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In healthy individuals physical exercise training is considered one of best intervention to improve muscle strength, endurance and cardiorespiratory function. Regular exercise can also prevent diseases such as diabetes mellitus, arteriosclerosis, some forms of cancer, bone fractures, overweight, and it may improve cognition and mood. Moreover, it can avoid the age-related loss of muscle, called sarcopenia. Physical fitness training is a planned and structured regimen of regular physical exercise. In particular, strength training is defined as a training performed primarily to improve muscle strength and endurance and it is typically carried out making repeated muscle contractions against resistance. Indeed, aerobic exercise training, or cardiorespiratory fitness training, is a training that consists of an activity or combination of activities that uses large muscle groups, that can be continuously maintained, and that is rhythmical and aerobic, for example walking, running, cycling, or swimming (<a class="fig-table-link fig figpopup" co-legend-rid="lgnd_F1" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/figure/F1/" rid-figpopup="F1" rid-ob="ob-F1" style="clear: both; color: #642a8f; cursor: pointer; display: inline-block !important; zoom: 1 !important;" target="figure">Fig. 1</a>).</div>
<div class="fig iconblock ten_col whole_rhythm clearfix" co-legend-rid="lgnd_F1" id="F1" style="clear: both; margin: 1.3846em 0px; overflow: hidden; width: 548.3125px; zoom: 1;">
<a class="icnblk_img figpopup" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/figure/F1/" rid-figpopup="F1" rid-ob="ob-F1" style="color: #642a8f; cursor: pointer; display: inline-block !important; float: left; margin-right: 1em; text-decoration: none; width: 100px; zoom: 1 !important;" target="figure"><img alt="Fig. 1." class="small-thumb" src-large="/pmc/articles/PMC4478773/bin/1128-2460-34-3-g001.jpg" src="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/bin/1128-2460-34-3-g001.gif" style="border: 1px solid rgb(68, 68, 68); max-width: none; width: 100px;" title="Fig. 1." /></a><div class="icnblk_cntnt" id="lgnd_F1" style="display: table-cell; vertical-align: top;">
<a class="figpopup" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/figure/F1/" rid-figpopup="F1" rid-ob="ob-F1" style="color: #642a8f; cursor: pointer; display: inline-block !important; zoom: 1 !important;" target="figure">Fig. 1.</a></div>
</div>
<div class="p p-last" id="__p13" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Studies of exercise training in patients with different neuromuscular diseases seem to suggest a positive effect without susceptibility to muscle injury (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R16" id="__tag_457767340" rid="R16" role="button" style="color: #642a8f;">16</a>- <a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R18" id="__tag_457767332" rid="R18" role="button" style="color: #642a8f;">18</a>). In fact, strength training, which is performed to improve muscle strength and muscle endurance, or aerobic exercise programs, which involve training at moderate levels of intensity for extended periods of time (for example, distance cycling) might maximize muscle and cardiorespiratory function and prevent additional disuse atrophy (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R19" id="__tag_457767346" rid="R19" role="button" style="color: #642a8f;">19</a>). Previous studies demonstrated a beneficial effect of low- to moderate-intensity resistance and aerobic training in slowly progressive myopathies (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R20" id="__tag_457767328" rid="R20" role="button" style="color: #642a8f;">20</a>). An improvement in aerobic capacity may prevent type 2 diabetes, cardiovascular disease, and other lifestyle diseases. Patients with neuromuscular disorders are known to have a higher risk of developing disorders associated with obesity and a sedentary lifestyle, such as metabolic syndrome, when compared with the general population. Therefore, the positive effect of a training program on aerobic capacity in these patients is of substantial importance for their long-term health and quality of life (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R21" id="__tag_457767336" rid="R21" role="button" style="color: #642a8f;">21</a>, <a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R22" id="__tag_457767343" rid="R22" role="button" style="color: #642a8f;">22</a>). However, clinicians are still afraid about muscle overuse during exercise in people with muscle disease and have a cautious approach to training. Limitations in patient number, design, and, most importantly, lack of supervision have often precluded any firm conclusion from previous studies (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R23" id="__tag_457767325" rid="R23" role="button" style="color: #642a8f;">23</a>). Importantly, as the pathophysiology of muscular dystrophies and myopathies differs, their reaction to training intervention might be different.</div>
</div>
<div class="tsec sec" id="S4" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="S4title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Muscle damage and exercise in LGMD</h2>
<div class="p p-first" id="__p14" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
The damage of skeletal muscle during exercise may be caused by metabolic or mechanical mechanism. The metabolic damage is the result of ischemia or hypoxia during prolonged exercise, resulting in changes in ion concentration, accumulation of ROS and deficiency of ATP. Mechanical stimuli can determine muscle damage as direct consequence of overload of muscle fibers or inappropriate balance of exercise variables, with a secondary disruption of the sarcomeric Z lines (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R24" id="__tag_457767338" rid="R24" role="button" style="color: #642a8f;">24</a>) and plasma membrane with loss of muscle proteins, such as creatine kinase (CK), lactate dehydrogenase, aldolase, myoglobin, troponin.</div>
<div id="__p15" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Muscle contractions may determine mild and nosignificant damage of muscle fibers during daily common activities (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R25" id="__tag_457767333" rid="R25" role="button" style="color: #642a8f;">25</a>). More severe injuries accompanied by myalgias are also possible, especially during predominantly lengthening (eccentric) contractions. There are three different types of contractions. If the force developed by the muscle is greater than the load on the muscle, a shortening (concentric) contraction occurs. When the force developed by the muscle and the load are equivalent, or the load is immovable, a fixed length, or isometric contraction, results.</div>
<div id="__p16" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
The third type of contraction occurs when the load on the muscle is greater than the force developed by the muscle and the muscle is stretched, producing a lengthening (eccentric) contraction. Depending on the severity of the injury, complete recovery may require from 7 to 30 days. Training with protocols of lengthening (eccentric) contractions produces a hypertrophic and stronger muscle. The "trained" muscle is then able to perform the protocol of repeated lengthening contractions that previously caused injury without sustaining an injury. It may be hypothesized that tear and load due to exercise on a sick muscle could accelerate the disease process in muscular dystrophies, in which sick fibres of different sizes, with disorganised myofibrillar structure, often undergoing regeneration or necrosis, in association with fibrosis and adipose tissue, does not seem for contractile activity. Based on the above considerations, patients with neuromuscular disorders in the past have been advised to refrain from strenuous exercise. But, one of the consequences of this is that patients develop severe deconditioning, with potential acceleration of the primary muscle disease process.</div>
<div class="p" id="__p17" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
However, in last decade, a growing number of studies has shown that exercise can be safe and beneficial for several muscle diseases, but, to date, it is still unknown what kind of exercise (aerobic versus strength training) should be recommended, and at what duration, frequency and intensities it should be performed. Starting from actual knowledge, there is the need to plan future studies aimed at addressing if motor training for muscle disease can play a therapeutic effect (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R26" id="__tag_457767320" rid="R26" role="button" style="color: #642a8f;">26</a>).</div>
<div class="sec" id="S4a" style="clear: both;">
<h3 style="color: #724128; font-family: arial, helvetica, clean, sans-serif; font-size: 0.875em; line-height: 1.2857; margin: 1.2856em 0px 0.6428em;">
Endurance training in LGMD2I (Sveen et al., 2007) (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R27" rid="R27" role="button" style="color: #642a8f;">27</a>)</h3>
<div class="p p-first" id="__p18" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Sveen and coworkers (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R27" id="__tag_457767335" rid="R27" role="button" style="color: #642a8f;">27</a>) analyzed the effect of lowintensity aerobic training in 9 patients with limb-girdle muscular dystrophy type 2I (LGMD2I), caused by mutation of fukutin-related protein, that is a cytosolic protein that glycosylates alpha-dystroglycan. Aplha-dystroglycan and integrin alpha-7beta-1D are the two main laminin receptors in skeletal muscle, playing a major role for the integrity of the sarcolemma. Exercise could be deleterious in patients with LGMD2I, considering the importance of alpha-dystroglycan in linking the sarcolemma to the extracellular matrix. The AA also evaluated the effect of a training program consisted in fifty 30-minute training sessions on cycle ergometer for 12 weeks, at a heart rate corresponding to 65% of their maximal oxygen uptake (VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span>). As a marker of exercise-inducing muscle damage, plasma CK was measured before and after a 12-week training period, 24 to 48 hours after the final training session. Plasma lactate and heart rate were used to validate the degree of exhaustion during cycle tests before and after training. Training improved VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span> and maximal workload in patients with LGMD2I. Plasma lactate levels and heart rate at rest and at VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span> did not differ significantly before and after training. Plasma CK levels tended to increase after training in patients, but also increased in nine matched healthy controls. Self-reported questionnaires showed that the majority of subjects with LGMD2I felt an improvement in physical endurance, leg muscle strength, and walking distance. No worsening of their condition or adverse events were reported.</div>
<div class="p p-last" id="__p19" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
The authors concluded that 12 weeks of low intensity aerobic training was effective and safe in increasing fitness in patients with LGMD2I. Training raised the patient's VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span> and workload capacity in watts by 21% and 27%, corresponding to the normal physiologic response to training in the healthy subjects. Increased work capacity was paralleled by self-reported improvements in endurance, leg muscle strength, and walking distance (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R27" id="__tag_457767344" rid="R27" role="button" style="color: #642a8f;">27</a>).</div>
</div>
<div class="sec" id="S4b" style="clear: both;">
<h3 style="color: #724128; font-family: arial, helvetica, clean, sans-serif; font-size: 0.875em; line-height: 1.2857; margin: 1.2856em 0px 0.6428em;">
Resistance training in patients with LGMD2I and LGMD2A (Sveen et al., 2013) (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R28" rid="R28" role="button" style="color: #642a8f;">28</a>)</h3>
<div class="p p-first" id="__p20" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
Sveen and coworkers presented the results of two pilot studies on the effect of resistance training in patients with LGMD2I, LGMD2A and Becker muscular dystrophy (BMD) (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R28" id="__tag_457767334" rid="R28" role="button" style="color: #642a8f;">28</a>). In particular, in one study they investigated the effect of low-intensity strength training (LOIT) in 2 patients with LGMD2A, in 4 patients with LGMD2I and 2 patients with BMD; in the other, they assessed the effect of high-intensity strength training (HIT) in 4 patients with LGMD2A, in 2 patients with LGMD2I and 1 patient with BMD. All recruited patients were ambulatory and considered to be mildly-moderately affected.</div>
<div id="__p21" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In LOIT study, the resistance-training program lasted 6 months. Two muscle groups were included in the training program: quadriceps (knee extension) and biceps brachii (elbow flexion). During the first 4 months of training the dominant side was trained, while both sides were trained for the final 2 months of training. The weight lifted during knee extension and elbow flexion started at 40% and was increased by 5% a week. Subjects were tested before and after 4 and 6 months of training for maximal strength and endurance (number of repetitions possible at 60% of maximal strenght). They also completed a questionnaire, named Sickness Impact Profile (SIP), for assessment of their daily function and quality of life. As a marker of exercise-induced muscle damage, plasma CK was monthly measured during the training period. At the end of the training period, elbow flexion and knee extension showed a significant increase in muscle strength and endurance; there was no change in the results from the SIP questionnaire regarding daily activities.</div>
<div id="__p22" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In HIT study, the training program lasted for 3 months. Additional muscle groups were included for testing, including wrist flexion and extension and plantar flexion, and both the right and left extremities were trained from the beginning. Subjects followed a strength training program with 3 sessions per week over the course of 12 weeks, with at least one day of rest between each training session. Supervision was provided during each session by a personal instructor. Patients were tested for maximum strength monthly. In order to measure endurance, patients performed as many repetitions as possible at 60% of their repeat maximun, which was found at the initial strength test. Each training session started with a 5-minute warm-up on a stationary cycle ergometer at low intensity, followed by three sets of each exercise performed with a 90-150-second interval between sets. In each set, the patient performed the maximum number of repetitions possible. Two patients with LGMD2A dropped out of the study because of training-induced CK elevations and myalgias. After 12 weeks of training, the strength of the patients improved in wrist flexion and extension, while the improvement in the other muscle groups was not significant. It was not observed a correlation between the initial strength level of the muscles and the percentage increase seen in the muscles. SIP questionnaire did not show changes in patient's self-reported daily status and quality of life.</div>
<div class="p p-last" id="__p23" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In conclusion, the preliminary results of this work indicated that resistance training could be safe and effective in increasing muscle strength and endurance in muscular dystrophies with proximal weakness, such as LGMD. The authors highlighted, however, that, until more knowledge is convened, training should be carefully supervised in order to recognize potential adverse effects, particularly in high-intensity protocols (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R28" id="__tag_457767327" rid="R28" role="button" style="color: #642a8f;">28</a>).</div>
</div>
<div class="sec sec-last" id="S4c" style="clear: both;">
<h3 style="color: #724128; font-family: arial, helvetica, clean, sans-serif; font-size: 0.875em; line-height: 1.2857; margin: 1.2856em 0px 0.6428em;">
Aerobic training in patients with LGMD2L (Vissing et al., 2014) (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R29" rid="R29" role="button" style="color: #642a8f;">29</a>)</h3>
<div class="p p-first-last" id="__p24" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
LGMD2L is a recessively inherited dystrophy caused by mutations in ANO-5 gene, that encodes for the putative calcium-sensitive chloride channel anoctamin 5, which is thought to play a role in membrane repair. In this study, 6 ambulant patients with LGMD2L were selected in order to evaluate the effect of home-based, pulse-watch monitored, moderate-intensity exercise at home on a cycle ergometer for 30 minutes, 3 times weekly, for 10 weeks. Also in the present work, plasma CK was assessed as a marker of muscle damage. Training was performed at a heart rate interval corresponding to 70% of their VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span>. Primary outcome measures were VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span> and time in the 5-repetitions-sit-to-stand test (FRSTST), requiring patients to rise and sit from a chair 5 times as rapidly as possible. The authors reported a significant improvement in oxidative capacity and muscle function (evaluated by VO<span style="bottom: -0.25em; font-size: 0.8461em; line-height: 1.6363em; position: relative; top: 0.25em; vertical-align: baseline;">2max</span> and FRSTST time), with stable CK levels and no reports of adverse effects (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R29" id="__tag_457767329" rid="R29" role="button" style="color: #642a8f;">29</a>).</div>
</div>
</div>
<div class="tsec sec" id="S5" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="S5title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Conclusions</h2>
<div class="p p-first-last" id="__p25" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
In LGMD, because muscle weakness is the main problem, muscular exercise can help to counteract the loss of muscle tissue and strength in LGMD. Although it is accepted that exercise has a positive role in many diseases, it is not possible to generalize this finding to muscular dystrophy, including LGMD, and there is the need to conduct a systematic search to point out the effects of muscular exercise in experimental settings. To date, there is no certain evidences about the type (endurance or strength), frequency and intensity of muscle exercise. However, a training with moderate (below 70% of predicted maximal aerobic capacity) aerobic exercise seems to play an useful and safe effect in muscular dystrophies (<a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R23" id="__tag_457767341" rid="R23" role="button" style="color: #642a8f;">23</a>, <a aria-expanded="false" aria-haspopup="true" class="bibr popnode tag_hotlink tag_tooltip jig-ncbipopper" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#R26" id="__tag_457767318" rid="R26" role="button" style="color: #642a8f;">26</a>).</div>
</div>
<div class="tsec sec" id="__ackid956816" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="__ackid956816title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
Acknowledgements</h2>
<div class="sec" style="clear: both;">
<div id="__p26" style="margin-bottom: 0.6923em; margin-top: 0.6923em;">
We are thankful to all patients and their associations, in particular the "Unione Italiana Lotta alla Distrofia Muscolare, UILDM" (<a href="http://www.uildm.org/" ref="reftype=extlink&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CBody&TO=External%7CLink%7CURI&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">www.uildm.org</a>) and the "Beta- Sarcoglicanopatie" Italian association (beta-sarcoglicanopatie. it). We wish to acknowledge the Italian Association of Myology (AIM), and Telethon Italy for its support GUP10006.</div>
</div>
</div>
<div class="tsec sec" id="__ref-listid898864" style="clear: both;">
<div class="goto jig-ncbiinpagenav-goto-container" style="float: right; font-family: arial, helvetica, clean, sans-serif; font-size: 0.86666em !important; text-align: right;">
<a aria-expanded="false" aria-haspopup="true" class="tgt_dark page-toc-label jig-ncbiinpagenav-goto-heading" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478773/#" role="button" style="background-attachment: initial; background-clip: initial; background-image: url(http://static.pubmed.gov/portal/portal3rc.fcgi/4034891/img/2846531); background-origin: initial; background-position: 100% 43.5%; background-repeat: no-repeat; background-size: initial; color: #642a8f; margin-right: 3px; padding-right: 17px; text-decoration: none;" title="Go to other sections in this page">Go to:</a></div>
<h2 class="head no_bottom_margin ui-helper-clearfix" id="__ref-listid898864title" style="border-bottom-color: rgb(151, 176, 200); border-bottom-style: solid; border-bottom-width: 1px; color: #985735; font-family: arial, helvetica, clean, sans-serif; font-size: 1em; line-height: 1.125; margin: 1.125em 0px 0px;">
References</h2>
<div class="ref-list-sec sec" id="reference-list" style="clear: both;">
<div class="ref-cit-blk half_rhythm" id="R01" style="margin: 0.6923em 0px;">
1. <span class="element-citation">Allen DG. Skeletal muscle function: role of ionic changes in fatigue, damage and disease. <span class="ref-journal">Clin Exp Pharmacol Physiol. </span>2004;<span class="ref-vol">31</span>:485–493. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/15298539" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R02" style="margin: 0.6923em 0px;">
2. <span class="element-citation">Banerjee B, Sharma U, Balasubramanian K, et al. Effect of creatine monohydrate in improving cellular energetics and muscle strength in ambulatory Duchenne muscular dystrophy patients: a randomized, placebo-controlled 31P MRS study. <span class="ref-journal">Magn Reson Imaging. </span>2010;<span class="ref-vol">28</span>:698–707. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/20395096" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R03" style="margin: 0.6923em 0px;">
3. <span class="element-citation">Tosetti M, Linsalata S, Battini R, et al. Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy. <span class="ref-journal">Muscle Nerve. </span>2011;<span class="ref-vol">44</span>:816–819. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/21952990" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R04" style="margin: 0.6923em 0px;">
4. <span class="element-citation">Lodi R, Muntoni F, Taylor J, et al. Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy.<span class="ref-journal">Neuromuscul Disord. </span>1997;<span class="ref-vol">7</span>:505–511. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/9447608" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R05" style="margin: 0.6923em 0px;">
5. <span class="element-citation">Allen DG, Lamb GD, Westerblad H. Skeletal muscle fatigue: cellular mechanisms. <span class="ref-journal">Physiol Rev. </span>2008;<span class="ref-vol">88</span>:287–332. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/18195089" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R06" style="margin: 0.6923em 0px;">
6. <span class="element-citation">Reid MB. Free radicals and muscle fatigue: Of ROS, canaries, and the IOC.<span class="ref-journal">Free Radic Biol Med. </span>2008;<span class="ref-vol">44</span>:169–179. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/18191753" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R07" style="margin: 0.6923em 0px;">
7. <span class="element-citation">Ferreira LF, Reid MB. Muscle-derived ROS and thiol regulation in muscle fatigue. <span class="ref-journal">J Appl Physiol. </span>2008;<span class="ref-vol">104</span>:853–860. (1985) <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/18006866" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R08" style="margin: 0.6923em 0px;">
8. <span class="element-citation">Kuwahara H, Horie T, Ishikawa S, et al. Oxidative stress in skeletal muscle causes severe disturbance of exercise activity without muscle atrophy. <span class="ref-journal">Free Radic Biol Med. </span>2010;<span class="ref-vol">48</span>:1252–1262. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/20156551" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R09" style="margin: 0.6923em 0px;">
9. <span class="element-citation">Tidball JG, Wehling-Henricks M. Expression of a NOS transgene in dystrophin-deficient muscle reduces muscle membrane damage without increasing the expression of membrane-associated cytoskeletal proteins. <span class="ref-journal">Mol Genet Metab.</span>2004;<span class="ref-vol">82</span>:312–320. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/15308129" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R10" style="margin: 0.6923em 0px;">
10. <span class="element-citation">Wehling M1, Spencer MJ, Tidball JG. A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. <span class="ref-journal">J Cell Biol. </span>2001;<span class="ref-vol">155</span>:123–131.<span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2150800/" style="color: #642a8f;">PMC free article</a>]</span> <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/11581289" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R11" style="margin: 0.6923em 0px;">
11. <span class="element-citation">Heydemann A, McNally E. NO more muscle fatigue. <span class="ref-journal">J Clin Invest.</span>2009;<span class="ref-vol">119</span>:448–450. <span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648689/" style="color: #642a8f;">PMC free article</a>]</span> <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/19306501" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R12" style="margin: 0.6923em 0px;">
12. <span class="element-citation">Gücüyener K, Ergenekon E, Erbas D, et al. The serum nitric oxide levels in patients with Duchenne muscular dystrophy. <span class="ref-journal">Brain Dev. </span>2000;<span class="ref-vol">22</span>:181–183.<span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/10814901" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R13" style="margin: 0.6923em 0px;">
13. <span class="element-citation">Tidball JG, Wehling-Henricks M. Nitric oxide synthase deficiency and the pathophysiology of muscular dystrophy. <span class="ref-journal">J Physiol. </span>2014;<span class="ref-vol">592</span>(Pt 21):4627–4638.<span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253467/" style="color: #642a8f;">PMC free article</a>]</span> <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/25194047" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R14" style="margin: 0.6923em 0px;">
14. <span class="element-citation">Kobayashi YM, Rader EP, Crawford RW, et al. Sarcolemma-localized nNOS is required to maintain activity after mild exercise. <span class="ref-journal">Nature. </span>2008;<span class="ref-vol">456</span>:511–515.<span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588643/" style="color: #642a8f;">PMC free article</a>]</span> <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/18953332" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R15" style="margin: 0.6923em 0px;">
15. <span class="element-citation">Crosbie RH1, Barresi R, Campbell KP. Loss of sarcolemma nNOS in sarcoglycan-deficient muscle. <span class="ref-journal">FASEB J. </span>2002;<span class="ref-vol">16</span>:1786–1791. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/12409321" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R16" style="margin: 0.6923em 0px;">
16. <span class="element-citation">Vignos PJ, Watkins MP. The effect of exercise in muscular dystrophy. <span class="ref-journal">JAMA.</span>1966;<span class="ref-vol">197</span>:843–848. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/5952771" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R17" style="margin: 0.6923em 0px;">
17. <span class="element-citation">McCartney N, Moroz D, Garner SH, et al. The effects of strength training in patients with selected neuromuscular disorders. <span class="ref-journal">Med Sci Sports Exerc.</span>1988;<span class="ref-vol">20</span>:362–368. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/3173043" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R18" style="margin: 0.6923em 0px;">
18. <span class="element-citation">Aitkens SG, McCrory MA, Kilmer DD, et al. Moderate resistance exercise program: Its effect in slowly progressive neuromuscular disease. <span class="ref-journal">Arch Phys Med Rehabil. </span>1993;<span class="ref-vol">74</span>:711–715. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/8328892" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R19" style="margin: 0.6923em 0px;">
19. <span class="element-citation">Voet NB, Kooi EL, Riphagen, et al. Strength training and aerobic exercise training for muscle disease. <span class="ref-journal">Cochrane Database Syst Rev. </span>2013;<span class="ref-vol">7</span>:CD003907–CD003907. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/23835682" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R20" style="margin: 0.6923em 0px;">
20. <span class="element-citation">Ansved T. Muscular dystrophies: influence of physical conditioning on the disease evolution. <span class="ref-journal">Curr Opin Clin Nutr Metab Care. </span>2003;<span class="ref-vol">6</span>:435–439. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/12806218" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R21" style="margin: 0.6923em 0px;">
21. <span class="element-citation">McCrory MA, Kim HR, Wright NC, et al. Energy expenditure, physical activity, and body composition of ambulatory adults with hereditary neuromuscular disease. <span class="ref-journal">Am J Clin Nutr. </span>1998;<span class="ref-vol">67</span>:1162–1169. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/9625089" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R22" style="margin: 0.6923em 0px;">
22. <span class="element-citation">Aitkens S, Kilmer DD, Wright NC, et al. Metabolic syndrome in neuromuscular disease. <span class="ref-journal">Arch Phys Med Rehabil. </span>2005;<span class="ref-vol">86</span>:1030–1036. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/15895353" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R23" style="margin: 0.6923em 0px;">
23. <span class="element-citation">Gianola S, Pecoraro V, Lambiase S, et al. Efficacy of muscle exercise in patients with muscular dystrophy: a systematic review showing a missed opportunity to improve outcomes. <span class="ref-journal">PLoS One. </span>2013;<span class="ref-vol">8</span>:e65414–e65414.<span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680476/" style="color: #642a8f;">PMC free article</a>]</span> <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/23894268" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R24" style="margin: 0.6923em 0px;">
24. <span class="element-citation">Luz CR, Nicastro H, Zanchi NE, et al. Potential therapeutic effects of branched-chain amino acids supplementation on resistance exercise-based muscle damage in humans. <span class="ref-journal">J Int Soc Sports Nutr. </span>2011;<span class="ref-vol">8</span>:23–23. <span class="nowrap ref pmc" style="white-space: nowrap;">[<a class="int-reflink" href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261811/" style="color: #642a8f;">PMC free article</a>]</span><span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/22168756" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R25" style="margin: 0.6923em 0px;">
25. <span class="element-citation">Faulkner JA, Brooks SV, Opiteck JA. Conditions of Occurrence and Prevention: Injury to Skeletal Muscle Fibers During Contractions. <span class="ref-journal">Phys Ther.</span>1993;<span class="ref-vol">73</span>:911–921. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/8248299" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R26" style="margin: 0.6923em 0px;">
26. <span class="element-citation">Vissing J, Engelen BG. 160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases: 20-22 June 2008, Naarden, The Netherlands. <span class="ref-journal">Neuromuscul Disord. </span>2013;<span class="ref-vol">23</span>:182–187.<span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/23010306" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R27" style="margin: 0.6923em 0px;">
27. <span class="element-citation">Sveen ML, Jeppesen TD, Hauerslev S, et al. Endurance training: An effective and safe treatment for patients with LGMD2I. <span class="ref-journal">Neurology. </span>2007;<span class="ref-vol">68</span>:59–61.<span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/17200494" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R28" style="margin: 0.6923em 0px;">
28. <span class="element-citation">Sveen ML, Andersen SP, Ingelsrud LH, et al. Resistance training in patients with limb-girdle and becker muscular dystrophies. <span class="ref-journal">Muscle Nerve. </span>2013;<span class="ref-vol">47</span>:163–169. <span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/23169433" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
<div class="ref-cit-blk half_rhythm" id="R29" style="margin: 0.6923em 0px;">
29. <span class="element-citation">Vissing CR, Preisler N, Husu E, et al. Aerobic training in patients with anoctamin 5 myopathy and hyperckemia. <span class="ref-journal">Muscle Nerve. </span>2014;<span class="ref-vol">50</span>:119–123.<span class="nowrap ref pubmed" style="white-space: nowrap;">[<a href="http://www.ncbi.nlm.nih.gov/pubmed/24639367" ref="reftype=pubmed&article-id=4478773&issue-id=254522&journal-id=1221&FROM=Article%7CCitationRef&TO=Entrez%7CPubMed%7CRecord&rendering-type=normal" style="color: #642a8f;" target="pmc_ext">PubMed</a>]</span></span></div>
</div>
</div>
</div>
<hr class="whole_rhythm no_bottom_margin" style="box-sizing: content-box; font-family: 'Times New Roman', stixgeneral, serif; font-size: 19.9988746643066px; height: 0px; line-height: 27.4984531402588px; margin: 1.3846em 0px 0px;" />
<div class="courtesy-note no_margin small" style="font-family: arial, helvetica, clean, sans-serif; font-size: 0.8461em; line-height: 1.6363em; margin: 0px; text-align: center;">
Articles from <span class="acknowledgment-journal-title">Acta Myologica</span> are provided here courtesy of <strong>Pacini Editore</strong></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-72701961257984477652015-07-13T03:09:00.001-07:002015-07-13T03:09:49.915-07:00DARE TO BUST A MOVE FOR LGMD<iframe allowfullscreen="" frameborder="0" height="270" src="https://www.youtube.com/embed/8tQo9WOsjbs" width="480"></iframe><br /><br />
<div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiF0JkKVasgp7oLsKDTkVXWHaZNA0wQ5pbgqHllGIEXhqOlokERhLGQmpKpn2WRaXB1GyqwsX9mCENaZYB8S0-FErf3W00vKG4A8xS5xpsVo3ZantbTHHbJ5vmiJcPqChtnnLOFiHtwqyFw/s1600/chero+july+076.png" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiF0JkKVasgp7oLsKDTkVXWHaZNA0wQ5pbgqHllGIEXhqOlokERhLGQmpKpn2WRaXB1GyqwsX9mCENaZYB8S0-FErf3W00vKG4A8xS5xpsVo3ZantbTHHbJ5vmiJcPqChtnnLOFiHtwqyFw/s1600/chero+july+076.png" /></a></div><br />Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-76420239113017417002015-07-10T06:14:00.001-07:002015-07-10T06:14:33.676-07:00Muscular Dystrophy Heavily Affecting US Latino Males By Nicole Akoukou Thompson (staff@latinpost.com)<span style="font-family: Arial, Tahoma, Helvetica, sans-serif;">Duchenne/Becker (DBMD) and Facioscapulohumeral muscular dystrophies are a part of a </span><a href="https://www.mda.org/disease" style="font-family: Arial, Tahoma, Helvetica, sans-serif;">group of more than 30 genetic diseases</a><span style="font-family: Arial, Tahoma, Helvetica, sans-serif;"> that cause progressive weakness and loss of muscular mass. Recent reports show that prevalence </span><a href="http://pediatrics.aappublications.org/content/early/2015/02/10/peds.2014-2044.full.pdf" rel="nofollow" style="font-family: Arial, Tahoma, Helvetica, sans-serif;">of muscular dystrophy is higher among Hispanic individuals than non-Hispanic white or black individuals</a><span style="font-family: Arial, Tahoma, Helvetica, sans-serif;">. However, there have been a series of research developments that could lead to future therapies for the currently untreatable disease.</span><br />
<br />
<br />
The genetic muscle-weakening disorder DBMD affects <a href="http://www.cdc.gov/ncbddd/musculardystrophy/research.html" rel="nofollow">1 in 5,600 to 7,700 males</a> (5 through 24 years of age) in the United States, and a recently published report, <a href="http://pediatrics.aappublications.org/content/early/2015/02/10/peds.2014-2044.full.pdf" rel="nofollow">printed in the journal "Pediatrics</a>," revealed that prevalence rates for DBMD is highest among Latinos.<br />
<br />
DBMD primarily affect boys (between ages 7 and 13), robbing them of their ability to walk and lead to an early death. While the reported documented more cases of MD among non-Hispanic whites (reflecting the sizable proportion of non-Hispanic white individuals in <a href="http://www.cdc.gov/ncbddd/musculardystrophy/research.html" rel="nofollow">the MD STARnet</a>), it showed that prevalence rates were highest among Hispanics (1.50 per 10,000 compared to 1.45 per 10,000 for non-Hispanic white).<br />
<div class="bk-socialbox">
<div class="bk-hd">
<div class="ttl-lft">
<br /></div>
<span class="clearfix"></span></div>
<div class="addthis_toolbox addthis_counter_style bk-bd">
<a class="addthis_button_facebook_like at300b" fb:like:href="http://www.latinpost.com/articles/65105/20150710/salud-muscular-dystrophies-heavily-affecting-u-s-latino-males-medical-advancements-on-the-horizon.htm" fb:like:layout="box_count" href="https://www.blogger.com/null" style="margin-right: 5px;"><div class="fb-like fb_iframe_widget" data-action="like" data-font="arial" data-href="http://www.latinpost.com/articles/65105/20150710/salud-muscular-dystrophies-heavily-affecting-u-s-latino-males-medical-advancements-on-the-horizon.htm" data-layout="box_count" data-ref="" data-send="false" data-share="false" data-show_faces="false" data-width="55" fb-iframe-plugin-query="action=like&app_id=172525162793917&container_width=250&font=arial&href=http%3A%2F%2Fwww.latinpost.com%2Farticles%2F65105%2F20150710%2Fsalud-muscular-dystrophies-heavily-affecting-u-s-latino-males-medical-advancements-on-the-horizon.htm&layout=box_count&locale=en_US&sdk=joey&send=false&share=false&show_faces=false&width=55" fb-xfbml-state="parsed">
According to the report, increased prevalence among Hispanic individuals may reflect suspected underreporting in census estimates for Hispanic children, ages 5-9, or it could reflect racial and ethnic differences in time of diagnosis and access to care.</div>
</a></div>
</div>
<br />
The <a href="http://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE65749" rel="nofollow">identification of the novel gene, Smchd1</a>, has exposed the gene's involvement in the development of facioscapulohumeral muscular dystrophy. Researchers at the <a href="http://www.wehi.edu.au/" rel="nofollow">Walter and Eliza Hall Institute</a> in Australia piloted research that established that Smchd1 is involved in DNA management and X chromosome inactivation. According to the report, the gene is dysfunctional in patients with FSHD2, a rare form of facioscapulohumeral muscular dystrophy (FSHD), which is a disorder that affects the skeletal muscles of the face, shoulders and upper arms.<br />
<br />
Smchd1 is very unusual in its interactions with the genome and encodes an epigenetic factor that can switch genes off to suppress their function. <a href="http://www.wehi.edu.au/news/gene-discovery-could-lead-muscular-dystrophy-treatment" rel="nofollow">The 'Goliath' molecule </a>"very delicately squeezes itself into a tiny 'seat' on the DNA. It binds at just a few discrete sites on the DNA, and then draws these pieces together to 'shield' them from being activated," said researchers from Walter and Eliza Hall Institute.<br />
<br />
The critical discovery of the gene allows for the deeper research into genetic changes, mutation and its effect on functions. In the long term, Smchd1 researchers could develop drugs that act as a substitute during mutation activity and prevents <a href="http://musculardystrophynews.com/2015/06/18/study-finds-novel-gene-involved-muscular-dystrophy/" rel="nofollow">debilitating muscle wasting</a>.<br />
<br />
To revisit the subject of developing a drug to treat muscular dystrophy, a pioneering treatment has been developed to eliminate the severe muscle-wasting condition known as Duchenne muscular dystrophy. However, the drug has been turned down for early NHS funding.<br />
<br />
European Medicines Agency (EMA) approved <a href="http://www.ptcbio.com/ataluren" rel="nofollow">Translarna</a> during August 2014, and it became the first drug to address the cause of Duchenne <a href="http://medicalxpress.com/tags/muscular+dystrophy/" rel="nofollow">muscular dystrophy</a>, which is a progressive genetic disorder characterized by muscle erosion and weakness, is caused by an absence of dystrophin, a protein that helps to keep muscle cells intact. While Translarna is available in many EU nations, it isn't available in England and several other nations around the world. The drug could help to slow muscle progression and help children to walk longer.<br />
<br />
Following NHS England's rejection, the National Institute for Health and Care Excellence (NICE) plans to conduct a drug review on Translarna, and they will report back in early 2016. During December 2014, <a href="http://www.prnewswire.com/news-releases/translarna-granted-orphan-drug-designation-in-the-us-and-europe-for-the-treatment-of-mucopolysaccharidosis-i-300012390.html" rel="nofollow">Translarna was granted orphan drug designation (ODD)</a> status in the U.S. and Europe for the Treatment of mucopolysaccharidosis.<br />
<br />
"It is very disappointing for the Duchenne muscular dystrophy community that the NHS has decided not to fund Translarna at this juncture. The drug is already available in several European countries following EMA conditional approval last year including Germany, Greece, Italy and France," said professor Kate Bushby from the The John Walton Muscular Dystrophy Research Centre and lead for that clinical trial of Translarna Drugs, in a recent <a href="http://www.ncl.ac.uk/biomedicine/news/item/muscular-dystrophy-experts-disappointment-at-drug-refusal" rel="nofollow">news release.</a> "Drugs for rare diseases are very expensive, but this is a function of the development pipeline and should not disadvantage the patients who suffer from these conditions.<br />
<br />
"If we are to have a constructive pipeline for rare disease drug development, then there needs to be a way to ensure that drugs which have been approved by the EMA have a mechanism to be available on the NHS."<br />
Bushby continued to state that it was disheartening to see investments from the research community and time from patients and families go to waste after they've participated in studies.<br />
<br />
Robert Meadowcroft, chief executive of Muscular Dystrophy U.K., said in a news release, "This news is a harsh blow to each and every boy and young man living with Duchenne muscular dystrophy. ... Parents of young children have faced a grueling nine-month wait for an answer on funding, only to hear 'no' from NHS England. ... Our focus now is to support parents affected by this decision through the waiting period, and to explore all alternatives, including working with senior doctors on requests for individual funding."<br />
<br />
When it comes to the prevalence of <a href="http://pediatrics.aappublications.org/content/early/2015/02/10/peds.2014-2044.full.pdf" rel="nofollow">Duchenne and muscular dystrophy in the U.S., </a> rates are highest for Hispanic individuals and lowest for non-Hispanic black individuals. Also, concerning estimates for disease development in relation to age, Hispanic individuals exceeded non-Hispanic white individuals for all but the youngest age group. Additionally, when prevalence rates managed to decrease, rates for Latinos still exceed rates for other racial and ethnic groups.<br />
<br />
Researchers are unclear as to why Latino males are heavily impacted by the disease, but the new study could heighten awareness about disease prevalence and understanding about the role the disease can play in the lives of young men.<br />
<br />
<br />
<div class="story-tags">
<strong>Tags</strong><a href="http://www.latinpost.com/tags/muscular-dystrophy-association">Muscular Dystrophy Association</a>, <a href="http://www.latinpost.com/tags/duchenne-muscular-dystrophy">Duchenne muscular dystrophy</a>, <a href="http://www.latinpost.com/tags/facioscapulohumeral-muscular-dystrophy">facioscapulohumeral muscular dystrophy</a>, <a href="http://www.latinpost.com/tags/smchd1">Smchd1</a>, <a href="http://www.latinpost.com/tags/translarna">Translarna</a></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-14806339970314618832015-07-09T06:54:00.000-07:002015-07-09T07:58:58.030-07:0012 Things Not to Say to Someone Who Has a Chronic Illness by Tess KomanThis statements have been told to people with muscular dystrophy ''they look fine'' several times...<br />
<br />
<strong>1. "At least it's not cancer." </strong><br />
You're right! Every day I am so insanely grateful that it's not [X horrible disease], but that doesn't mean I want to be reminded of it. I feel terrible that other people have it worse than I do, but it actually helps me to mope a little bit about how badly <em>I've </em>got it some days. I'm allowed to mope no matter how big my problems are comparatively.<br />
<br />
<strong>2. "Oh, yeah, I get terrible cramps/pains/aches too."</strong><br />
<strong> </strong>Girl, I'm sure you do. And I am not taking away from whatever miserable thing happens when you get your period because periods suuuck. That being said, I don't really want to compare your cramps or whatever to something that's sent me to the hospital a few times.<br />
<br />
<div class="arsegment">
<strong>3. "You have to get your stress under control." </strong><br />
Totally. I totally do! There is absolutely a connection between mental health and physical health, and I am constantly reminded of this when I manage to actually make myself sick. Thank you though for adding to my stresses about being stressed.<br />
<br /></div>
<div class="arsegment">
<strong>4. "But you <em>look </em>OK!" </strong><br />
It takes a lot of time and effort for me to look OK some days. What you're looking at is a fully medicated, sometimes self-conscious, totally-prepared-in-case-of-disaster human who doesn't want you looking at her like she is nothing more than her disease. I'm happy to hear you judge a book by its cover though!<br />
<br />
<strong>5. "Have you tried X drug? Or Y drug?"</strong><br />
<strong> </strong>I truly appreciate your concern (and curiosity! I never mind if you ask respectful questions.) and I know you WebMD'ed my illness after the last time we spoke because you care. That being said, I tried that drug (and that other drug. And probably, like, seven other drugs) a few years ago at the suggestion of my doctor ... who has an M.D.<br />
<br />
<div class="arsegment">
<strong>6. "My cousin's friend's sister has that and it's not so bad."</strong><br />
The weird thing about bodies is that they're all different. Your immune system is different than my immune system and my problems are different than your cousin's friend's sister's problems.<br />
<br /></div>
<div class="arsegment">
<strong>7. "Did you try going gluten-free? My cousin's friend's sister went gluten-free and it solved all her problems." </strong><br />
Going gluten-free solves problems for people who have celiac disease or gluten intolerances. Again, I'm super happy that you cousin's friend's sister is doing really well (Seriously!) but you're killing me, smalls.<br />
<br />
<strong>8. "Wow, you're so young to be dealing with that." </strong><br />
Yep. See no. 1. <br />
<br />
<strong>9. "Weren't you just at the doctor?" </strong><br />
"Chronic" means recurring. Dealing with chronic illnesses means dealing with recurring symptoms that require constant monitoring and treatment. I don't leave work every other week for fun — I do it for my health. It's really important that I stay on top of my doctor's visits.<br />
<br /></div>
<div class="arsegment">
<strong>10. "Is it fatal? Will you die?"</strong><br />
I can't speak for everyone, but I vividly remember my doctor telling my panicked mom that my disease was "completely life-altering, but not life-ending" upon my diagnosis. I was 7 and that line has worked for me in the face of this question ever since.<br />
<br />
<strong>11. "Oh, cool, I saw an episode of <em>House </em>on that once!" </strong><br />
Cool! Did the episode end well? Or did the person die? I ask because one time I saw that same episode of <em>House </em>and it did not end well, so I texted my doctor frantically — yeah, I text my doctor, come at me, bro — who told me that TV is dumb sometimes.<br />
<br />
<strong>12. "Oh ... that's gross." </strong><br />
Love that you called my existence gross. Love! Thanks!<br />
<br />
via: http://www.cosmopolitan.com/lifestyle/news/a42927/things-not-to-say-to-someone-who-has-a-chronic-illness/</div>
</div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-10632102684773528662015-07-04T11:09:00.001-07:002015-07-04T11:11:29.120-07:00For Nairobi's Disabled, an Equal Chance Behind the Wheel by Lenny Ruvaga<span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><br />
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4CXErc_xxsBVcQbBYlzy6xEBMwCLwwy0ki__MOWAwQuWDcdIeHJaNQhlftBMj8RwvaPle6uaajfgdN-eDs9lweGGr78C0AnKRxgV9ATa1GH77BxWdsrXDXXc3_Mpi2Ll8IVL2PFKunOqq/s1600/ddd.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="240" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh4CXErc_xxsBVcQbBYlzy6xEBMwCLwwy0ki__MOWAwQuWDcdIeHJaNQhlftBMj8RwvaPle6uaajfgdN-eDs9lweGGr78C0AnKRxgV9ATa1GH77BxWdsrXDXXc3_Mpi2Ll8IVL2PFKunOqq/s320/ddd.jpg" width="320" /></a></div>
<span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;"><br /></span></span><span class="dateline" style="background-color: white; float: left; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px;"><span style="font-size: large;">NAIROBI—</span></span><br />
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;"> Each day, 45-year-old George Papai makes an arduous journey to and from work — and his commute is unusually long.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">Today is no different. Whereas an able-bodied person would make the same bus trip in about 45 minutes, it takes Papai two hours.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">In a country whose infrastructure, buildings and transit policies fail to factor in needs of the disabled, Papai and others like him feel like second-class citizens.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">“The way the buildings [used to be] constructed, they are not disabled-friendly," he said. "Even the cars — most of them they are not disabled-friendly. Some people have wheelchairs [and] they find it a problem to get into the vehicle with their wheelchair, and they don’t even have space to place their wheelchairs.”</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">Carlos Lwangu, who manages a fleet of 11 buses that shuttle between Nairobi and Ngong, disabled citizens need help from both the public and private sector.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">“If the government looked into it, and even if the private sector looked at the situation as well, we would look at the paraplegics, pregnant women and the children," he said. "All this [would] make the community better so that public transport will be sufficient for all these three groups."</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">This kind of built-in inequality is what one Nairobi-based driving school is hoping to address by offering driving lessons for the disabled.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">Nearly 10 years ago, <a href="http://www.rockyschool.co.ke/" style="color: #132fbe; text-decoration: none;" target="_blank">Rocky Driving School</a> instructors began teaching physically impaired students the skills essential to operating specially-equipped cars.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">They are the only driving school in East and Central Africa to offer the special courses.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">Dismas Ondoro, one of the specially-trained instructors, says the training vehicles, which cost about $1,000 to modify, have a lever attached to both the accelerator and brake pedals. When students want to accelerate, they push the lever forward. When they want to brake, they push it back. Ondoro says the lever can be used by people with any number of handicaps. </span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">For Papai, who is currently enrolled in one of the $150 driving courses, which take four weeks to complete, the experience has the potential dramatically expand horizons of independence and personal mobility.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">“I am very much excited at learning how to drive, because by so doing I can also drive like any other [able-bodied] person, unlike before where we felt we have been left out or we cannot be able to drive on our own," he said.</span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;">With only five more lessons to go before he takes the National driving exam, Papai is confident that at last he will be behind the wheel of his own destiny. </span></div>
<div style="background-color: white; font-family: Arial, Helvetica, 'Arial Unicode MS', sans-serif; line-height: 22px; margin-bottom: 1.5em; padding: 0px;">
<span style="font-size: large;"> via </span><span style="background-color: transparent;"><span style="font-family: Arial, Helvetica, Arial Unicode MS, sans-serif; font-size: large;">http://www.voanews.com/content/nairobi-disabled-driving-school-handicap-transit-kenya/2412030.html</span></span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-28710086241895500482015-06-29T08:45:00.000-07:002015-06-29T08:49:31.907-07:00Lip Injections Studied to Help Facial Paralysis in Muscular Dystrophy Patients.<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span></span>
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;">Patients with facial paralysis as a result of muscular dystrophy may benefit from new research conducted at Johns Hopkins University School of Medicine. <a href="http://www.hopkinsmedicine.org/profiles/results/directory/profile/0020256/kofi-boahene" style="-webkit-transition-duration: 200ms, 200ms, 200ms, 200ms, 200ms; -webkit-transition-property: color, background-color, text-shadow, box-shadow, border; -webkit-transition-timing-function: ease, ease, ease, ease, ease; background-attachment: initial; background-clip: initial; background-color: initial; background-image: initial; background-origin: initial; background-position: 0px 0px; background-repeat: initial; background-size: initial; box-sizing: border-box; text-decoration: none; transition-duration: 200ms, 200ms, 200ms, 200ms, 200ms; transition-property: color, background-color, text-shadow, box-shadow, border; transition-timing-function: ease, ease, ease, ease, ease;">Kofi Boahene, MD</a>, a facial plastic and reconstructive surgeon in the <a href="http://www.hopkinsmedicine.org/otolaryngology/specialty_areas/facial_plastic_reconstructive_surgery/reconstructive_procedures/facial_reanimation_surgery.html" style="-webkit-transition-duration: 200ms, 200ms, 200ms, 200ms, 200ms; -webkit-transition-property: color, background-color, text-shadow, box-shadow, border; -webkit-transition-timing-function: ease, ease, ease, ease, ease; background-attachment: initial; background-clip: initial; background-color: initial; background-image: initial; background-origin: initial; background-position: 0px 0px; background-repeat: initial; background-size: initial; box-sizing: border-box; text-decoration: none; transition-duration: 200ms, 200ms, 200ms, 200ms, 200ms; transition-property: color, background-color, text-shadow, box-shadow, border; transition-timing-function: ease, ease, ease, ease, ease;">Department of Otolaryngology-Head and Neck Surgery</a> at Hopkins, led a study that found hyaluronic acid injections are useful in rejuvenating lip strength in patients with muscular dystrophy.</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">“It’s a very large problem that can occur because of stroke, Bell’s Palsy, muscular dystrophy, trauma and birth defects,” stated Dr. Boahene, in a <a href="http://www.hopkinsmedicine.org/news/media/releases/cosmetic_lip_surgery_may_ease_facial_paralysis_small_study_suggests" style="-webkit-transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease; background: 0px 0px; box-sizing: border-box; text-decoration: none; transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease;" target="_blank"><span style="box-sizing: border-box; text-decoration: underline;">news release</span></a> from Hopkins. Dr. Boahene worked with colleagues from Hopkins and Stanford to author the study, “<span id="scm6MainContent_lblArticleTitle" style="box-sizing: border-box;"><em style="box-sizing: border-box;"><a href="http://archfaci.jamanetwork.com/article.aspx?articleid=2319045" style="-webkit-transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease; background: 0px 0px; box-sizing: border-box; text-decoration: none; transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease;" target="_blank"><span style="box-sizing: border-box; text-decoration: underline;">Quantifying Labial Strength and Function in Facial Paralysis: </span></a></em><span class="subTitle" style="box-sizing: border-box;"><em style="box-sizing: border-box;"><a href="http://archfaci.jamanetwork.com/article.aspx?articleid=2319045" style="-webkit-transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease; background: 0px 0px; box-sizing: border-box; text-decoration: none; transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease;" target="_blank"><span style="box-sizing: border-box; text-decoration: underline;">Effect of Targeted Lip Injection Augmentation</span></a>,</em>” which was published in <span style="box-sizing: border-box; text-decoration: underline;"><em style="box-sizing: border-box;"><a href="http://archfaci.jamanetwork.com/journal.aspx" style="-webkit-transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease; background: 0px 0px; box-sizing: border-box; text-decoration: none; transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease;" target="_blank">JAMA Facial Plastic Surgery</a></em></span>.</span></span></span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><span style="box-sizing: border-box;"><span class="subTitle" style="box-sizing: border-box;"><br style="box-sizing: border-box;" /></span></span></span><span style="font-size: large;">The goal was to help patients who have lost lip control and consequently struggle with drooling, eating and drinking, making certain speech sounds such as “b” and “p,” and self image. With a bit of serendipity, Dr. Boahene found that hyaluronic acid injections in one of his patients with then-undiagnosed muscular dystrophy improved the strength of her lips and enhanced her articulation.</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">Accordingly, Dr. Boahene and collaborators initiated a study that recruited three patients with muscular dystrophy who had facial paralysis on both sides of the mouth, along with 22 other patients who had paralysis evident on only one side of the mouth. At the time of treatment, the doctors asked the patients to purse and blow air through their lips. Wherever the doctors noted weak points on the patients’ lips, they administered an injection of hyaluronic acid.</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">To determine the efficacy of treatment, the doctors compared the strength of patients’ lips, estimated from pressure readings, before and after treatment. Patients with muscular dystrophy demonstrated the most significant improvement, although on-average there was a benefit across all patient population. Lip strength of muscular dystrophy patients increased six- to sevenfold, and lip strength of the remaining patients increased approximately 1.4-fold. </span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;">Additionally, a speech therapist determined that patients had markedly improved in their ability to speak and eat and drink without spillage.</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">Dr. Boahene explained the reason for the benefit by making an analogy to nature. “To maintain structure, plants fill their leaves and stems with water,” <a href="http://www.hopkinsmedicine.org/news/media/releases/cosmetic_lip_surgery_may_ease_facial_paralysis_small_study_suggests" style="-webkit-transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease; background: 0px 0px; box-sizing: border-box; text-decoration: none; transition: color 200ms ease, background-color 200ms ease, text-shadow 200ms ease, box-shadow 200ms ease, border 200ms ease;" target="_blank"><span style="box-sizing: border-box; text-decoration: underline;">said</span></a> Dr. Boahene. “It’s a crude analogy, but injecting the lips with hyaluronic acid works in much the same way. It tones the tissue surrounding the muscle.”</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">The typical lifetime of seeing a benefit from hyaluronic acid injections for cosmetic purposes is approximately a year. The lasting effects for the patients in this study have not yet been established, but this may be a point to consider in another future study. Already, the research team is planning a study with 100 patients. So far, there have been no marked side effects, only improvements.</span></span></div>
<div style="background-color: white; box-sizing: border-box; line-height: 24px; margin-bottom: 15px;">
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span><span style="font-size: large;">Cost-wise, receiving hyaluronic acid injections can be up to $2,000 for cosmetic purposes. If injections are demonstrated to have a therapeutic benefit, insurance companies might make an exception to cover the bill. As a minimally-invasive outpatient procedure, lip injections may be a valuable addition to help patients with facial paralysis due to muscular dystrophy.</span></span><br />
<span style="font-family: Times, Times New Roman, serif;"><span style="font-size: large;"><br /></span></span>
<span style="font-family: Times, Times New Roman, serif; font-size: large;">Visit: musculardystrophynews.com for more updates on research and breakthroughs.</span></div>
<div style="height: 0px;">
<br /></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com3tag:blogger.com,1999:blog-6594447133371940514.post-30036611611481834012015-06-26T10:08:00.001-07:002015-06-26T10:08:55.895-07:00School pupil carries disabled best friend to lessons for three years and pair get top marks<h3 style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: "Arial","sans-serif"; font-size: 11.5pt;"><b>Friends need to understand...</b></span></h3>
<div style="background: white; line-height: 15.0pt;">
<span style="font-family: Arial, sans-serif;"><span style="color: #505050;">A kind-hearted school</span><span class="apple-converted-space"><span style="color: #505050;"> </span>pupil </span></span><span style="color: #505050; font-family: Arial, sans-serif;">who carried his friend to lessons for three
years is celebrating after the pair achieved top marks in exams.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Zhang Chi, 19, suffers from
muscular dystrophy, which means he has severely weakened muscles and is unable
to get around on his own.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">So since 2012, his dedicated
pal Xie Xu, 18, has given him a piggyback everywhere he goes at Daxu High
School in Jiangsu, China.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">The pair live in dorms near the
school, where Xie is often seen carrying Zhang to the cafeteria for breakfast.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">He also helps him wash his
clothes and brings him three meals each day, reports Shanghaiist.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Xie carries Zhang, who hasn't
missed a lesson in three years, back and forth at least 12 times each day - for
over 200 days every year.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">and what's more remarkable the
pair are amongst the brightest students in their school after achieving top
marks in their exams.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">But the duo will soon be splitting
when they go to different universities.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Xie has applied for the Nanjing
Polytechnic Institute, while Zhang will be sitting China's intensive college
exams.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Daxu High's assistant
headteacher Guo Chunxi said: "The story of the two students is so
inspiring and touching. They aren't family, but [Xie] has been doing this for
three years.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">"He's the most beautiful
student. He also exerts positive influence on other students, who readily help
Zhang. With their assistance, Zhang has never missed out on one single
class."<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Their story quickly went viral
on Chinese social media site Weibo after tugging on the heartstrings of its
users.<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">One user wrote:</span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"> "We should
learn from their friendship. In today's society, Zhang's dedication is
especially precious."<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;">Another added: "He's the
most beautiful student in China."<o:p></o:p></span></div>
<div style="background: white; line-height: 15.0pt;">
<span style="color: #505050; font-family: Arial, sans-serif;"><br /></span></div>
<br />
<div class="MsoNormal">
<span style="font-family: 'Times New Roman', serif; line-height: 115%;">Story via: </span><span style="font-family: Times New Roman, serif;"><span style="line-height: 23px;">http://www.standardmedia.co.ke/lifestyle/article/2000159862/school-pupil-carries-disabled-best-friend-to-lessons-for-three-years-and-pair-get-top-marks</span></span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-72198188872544508662015-06-26T02:40:00.001-07:002015-06-26T02:40:25.426-07:00Muscular dystrophy children in Kenya strive for hope<div class="MsoNormal" style="background: white;">
<b><span style="font-family: Verdana, sans-serif; font-size: 10pt; text-transform: uppercase;">MD IS HARD TO PREVENT AND PARENTS FOUND TO BE
HAVING<br />
THE GENE ARE ALWAYS ADVISED AGAINST HAVING KIDS.</span></b><span style="font-family: 'Times New Roman', serif; font-size: 13.5pt;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<b><span style="font-family: Verdana, sans-serif; font-size: 10pt; text-transform: uppercase;"><br /></span></b></div>
<div class="MsoNormal" style="background: white;">
<i><span style="color: grey; font-family: Verdana, sans-serif;">ELDORET
(Xinhua) --</span></i><span style="font-family: Verdana, sans-serif;"> </span><span style="font-family: Verdana, sans-serif;">All parents feel passionate about their child. They
would do anything and will never stop to believe in their child.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">With that kind of
feeling no expectant mother would think of having an abnormal or disabled child
like developing diseases such as muscular dystrophy.</span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Muscular dystrophy
(MD) is a genetic disorder that gradually weakens the body’s muscles. It’s
caused by incorrect or missing genetic information that prevents the body from
making the proteins needed to build and maintain healthy muscles.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Many children with
muscular dystrophy follow a normal pattern of development during their first
few years of life, but in time common symptoms begin to appear.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">A child who has MD
may start to stumble, waddle, walk on the toes without the heels hitting the
floor and may start struggling to get up from a sitting position.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Anthony Kahinga and
Duncan Dungere are brothers, who have lived in Kimumu Children’s Home in Sinai
Eldoret, western Kenya, for the last seven years.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Kahinga and Dungere
were given birth by a single mother, at Munyaka village in Eldoret. The now 15
and 10 years old children respectively were born normal without any disability.
Both their mother and grandmother worked tirelessly to see them through school.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">At the age of 8,
Kahinga started developing weak limbs which deteriorated day after day. Shortly
after, it was followed by his left leg, which developed paralysis and could not
carry him around.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">His mother took him
from one hospital to another, but due to lack of funds, Kahinga was unable to
get proper medication, and the mother did not get to know the cause of his
sudden disability.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">According to their
new found guardian Obadiah Karuru, who also teams up as the founder of their
new home, Kiplombe People Living with Aids (KIPLWAS), the boy’s mother got fed
up after a series of trials and abandoned the boys to the care of their grandmother.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">“They soon became a
burden to her as she found it hard providing their daily meal,” he said, “She
then decided to look for help from her neighbors who advised her to bring them
to the home.”</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Karuru is a
46-year-old father of 8, who has lived with HIV virus for the past 10 years. He
fought so hard to do away with stigma in his life and when he finally did he
felt it would be better to help other patients accept their status.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">He embarked on an HIV
awareness journey that saw him care for the HIV orphaned children more, hence
the interest of accommodating and giving them their right to education.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Karuru turned his
Kimumu house to a children’s home before raising funds to expand it. It was
initially a home for the HIV orphaned children, but also opened doors for
Dungere and Kahinga after seeing their suffering and their need for care and
protection. He has since begun a school and has given hope to more than 200
children.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">“I first admitted
Kahinga into the school as he commuted from his grandmother’s house, where I
catered for his daily transportation to and from school,” He said.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">“That did not offer
much help to them as getting their daily meal was still a big problem to their
custodian,” he said.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">As time went by,
Karuru felt the children needed more attention than just the transport, meals
and school. He felt they needed more care and protection. He therefore talked
to their custodian, and finally admitted them permanently into the home.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">“The day I admitted
them into the home is the last day I saw their grandmother and relatives,” said
Karuru, during an interview.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">He took Kahinga’s
sudden disability as a normal physical challenge and never imagined that it
could get serious, or that it could be genetic as it later turned out.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">At the age of 8, the
younger one of the two boys Dungere also started developing similar symptoms as
seen in his elder brother.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Luckily for him, it
happened at a time when the first bone surgery hospital in Kenya, St Luke’s
Orthopedics and Trauma Hospital was opened in Eldoret.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">He sought medical
help at the hospital, which confirmed that the boys were suffering from
muscular dystrophy. He was advised that the disorder was genetic and that it
had no cure except for therapy.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Karuru kept to weekly
therapy sessions for the brothers at a cost of 5.85 U.S. dollars for each. He
has committed himself to ensuring that the boys receive the therapies despite
their financial implications on him.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">Dr. Lelei Kibor, a
specialist orthopedic surgeon at St. Lukes Orthopedics and Trauma Hospital is
handling Kahinga and Dungere’s cases.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;">He explained that
there are several major forms of MD, which can affect the muscles to varying
degrees.</span><span style="font-family: 'Times New Roman', serif;"><o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Verdana, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<br /></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-18056830083114990032015-06-25T08:03:00.001-07:002015-06-25T08:03:40.826-07:00When Muscular Dystrophy Is Personal — And Global<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJ1I-ztBDJA9B2xhyphenhyphenLhjua9TEOyQDNiEBAkC6TNhhOJKQY9miJizngETMO4mME8kUNd-DIxXS9_zXn7Grmc25vQDwbEwNYMaicaetNuXFiqbg2AoEK5x7NYuoTCbx-GqXBHDkXM_CS-IUM/s1600/chege.jpeg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhJ1I-ztBDJA9B2xhyphenhyphenLhjua9TEOyQDNiEBAkC6TNhhOJKQY9miJizngETMO4mME8kUNd-DIxXS9_zXn7Grmc25vQDwbEwNYMaicaetNuXFiqbg2AoEK5x7NYuoTCbx-GqXBHDkXM_CS-IUM/s320/chege.jpeg" width="210" /></a></div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
<strong style="border: 0px; font-family: inherit; font-size: inherit; font-stretch: inherit; font-style: inherit; font-variant: inherit; line-height: inherit; margin: 0px; padding: 0px; vertical-align: baseline;"><br /></strong></div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
<b>Facioscapulohumeral muscular dystrophy (FSHD)</b></div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
<strong style="border: 0px; font-family: inherit; font-size: inherit; font-stretch: inherit; font-style: inherit; font-variant: inherit; line-height: inherit; margin: 0px; padding: 0px; vertical-align: baseline;">By Fred Thys<br />Guest Contributor</strong></div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Every once in a while, I’m grateful I live in such a medically-minded town, with many deep thinkers trying to figure out treatments and cures for some very tough diseases.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
I felt this way over the summer, at a conference in Boston on Facioscapulohumeral Muscular Dystrophy, a genetic disorder that affects 1 in 8,333 people and has no treatment. I did not attend the meeting due to some theoretical interest in the topic; for me, it’s personal.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
My mother and grandmother suffered from the condition, and so does my brother. It causes gradual loss of muscle function, notably in the face, and in the muscles that mobilize the shoulder blades and the upper arm, but also in the legs.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
My brother first developed symptoms when he was 15, and found that he could no longer run as fast as his high school soccer teammates. Since the age of 43, he has been confined to a wheelchair or scooter, unable to walk or stand.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
But at the conference in August, I also realized that this illness with such a profound impact on my family, also has a global reach. Indeed, in regions like Africa, the condition is only just beginning to be acknowledged.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Enter: Chris Chege</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
I first saw Chege sitting on a tall stool at the back of the room with his wife. Their presence proved that the condition affects Africans, too, something that isn’t widely acknowledged. Chege and his wife had traveled to Boston from their home in Thika, in central Kenya, 30 miles Northeast of Nairobi.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
An interview with Chege pointed to one possible reason that conference room was full, mainly, of white people: most people with the condition in Africa may not have been diagnosed with it yet.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
But Chege said he sees others with FSHD in Kenya. He said he can tell.”By the way they walk,” he said. “I see them on national television when journalists go to their homes to interview them.”<span id="more-44259" style="border: 0px; font-family: inherit; font-size: inherit; font-stretch: inherit; font-style: inherit; font-variant: inherit; font-weight: inherit; line-height: inherit; margin: 0px; padding: 0px; vertical-align: baseline;"></span></div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
The television journalists, Chege says, report that the families he sees on television with the symptoms of FSHD are bewitched.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
“The way they walk I can tell that’s muscular dystrophy,” he said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
His own condition was a mystery to him for nearly twenty years.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
When he was a teenager, he first realized that he could not keep up with other people. “Back home, my father was a farmer,” Chege said. “We used to pick coffee berries from our farm. Once we pick the coffee berries, we have to take them to a processing machine, and you take what you pick.”</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Chege would have to carry 45 lbs of coffee berries at a time. One day, he found that he was unable to carry so many berries. “I used to receive a lot of beatings from my father and my mother because they thought I was just lazy,” he said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Chege decided on his own to see a doctor, who gave him medication that produced “a lot” of side effects on him, he said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
There are no medications approved anywhere for the treatment of FSHD.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
It was not until the year 2000, at the age of 34, that he was diagnosed with muscular dystrophy.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
“Life is very harsh having a muscular dystrophy condition, because in my town, it’s very hilly, so walking around is quite difficult, and if I have to walk around, I have to have somebody to help me, and you see, almost everybody is busy,” he said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
So most of the time, Chege said, he sits at home.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
“It’s actually very, very harsh in Africa,” he said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Chege and his wife have two boys, 16 and 10. “The way they behave during their daily activities, she senses they may be affected also,” he said</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Chege found out about the FSH Society’s biannual conferences that bring together patients, their families, and researchers.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
Peter Jones was one of the researchers at the conference who met with Chege. Jones is conducting research at the University of Massachusetts Medical School. The genetic sequence that causes FSHD, known as 4q35 D4Z4, is present in healthy people as well as people affected by the disorder. In healthy people, the sequence is suppressed. For some reason, in people affected by FSHD, the suppression mechanism doesn’t work. Jones is trying to figure out why.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
“I decided to come to this conference in Boston to meet other patients who have the same condition and also to learn more about this condition and also to meet the scientists, the doctors and to gather more information so that I can be able to educate others back home,” Chege said.</div>
<div style="border: 0px; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; font-stretch: inherit; line-height: 21px; margin-bottom: 15px; padding: 0px; vertical-align: baseline;">
<br /></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-46687445983004583572015-06-24T03:33:00.001-07:002015-06-24T03:33:11.705-07:002010 Hearne Award Honoree: Lawrence Carter-Long<iframe allowfullscreen="" frameborder="0" height="270" src="https://www.youtube.com/embed/CFQFJRwav5U" width="480"></iframe>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1tag:blogger.com,1999:blog-6594447133371940514.post-4525187164209063352015-06-22T03:13:00.000-07:002015-06-22T03:13:29.355-07:00Researchers uncover novel blood biomarkers to better monitor therapy effectiveness for Duchenne Muscular Dystrophy<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
<br /></div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
Children's National Health System researchers and other teams have uncovered a wide range of blood biomarkers in patients with Duchenne <a class="keywords" href="http://www.medicalnewstoday.com/articles/187618.php" style="-webkit-print-color-adjust: exact; border-bottom-style: none; border-color: initial; border-left-width: 0px; border-right-width: 0px; border-top-width: 0px; color: #b000b5; font-weight: 600; margin: 0px; outline: 0px; padding: 0px; text-decoration: none;" title="What is muscular dystrophy? What causes muscular dystrophy?">Muscular Dystrophy</a> (DMD) that may provide significant insights into evaluating stages of the rare and deadly disease, and create the opportunity for future drug development to combat it.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The collaborative study involving academic, industry, and patient advocacy scientists was published in the <em style="-webkit-print-color-adjust: exact; border: 0px; margin: 0px; padding: 0px;">Proceedings of the National Academy of Sciences</em>.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
DMD is an X-linked genetic disorder impacting boys and is characterized by progressive muscle degeneration and weakness, leading to loss of ambulation by 8 to 15 years of age, and eventually early death by mid-twenties. There is no effective treatment for DMD and the disease cannot be cured. Corticosteroids can delay muscle <a class="keywords" href="http://www.medicalnewstoday.com/articles/248423.php" style="-webkit-print-color-adjust: exact; border-bottom-style: none; border-color: initial; border-left-width: 0px; border-right-width: 0px; border-top-width: 0px; color: #b000b5; font-weight: 600; margin: 0px; outline: 0px; padding: 0px; text-decoration: none;" title="Inflammation: Causes, Symptoms and Treatment">inflammation</a> for a couple of years, but cannot cure the disease.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The new biomarker results potentially offer a key tool that may be used to evaluate DMD progression in patients and help monitor efficacy of new therapies, said Yetrib Hathout, PhD, Associate Professor, Department of Integrative Systems Biology, Center for Genetic Medicine Research at Children's National, and first author of the paper. Currently, clinicians often rely on a 6-minute walk test among patients to evaluate response to therapies, but this task has proven challenging, especially in young boys.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
"There has been a critical need for useful biomarkers to help with the diagnosis and treatment of DMD. By examining the level of biomarkers, we can tell the disease stage and progression, too," Dr. Hathout said. "In that way, we can target different pathways into the disease, monitor responses to therapy, and target a drug for the condition."</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The study focused on a review of more than 1,125 protein samples in blood of 93 DMD patients and 45 age-matched, healthy volunteers. The researchers found highly significant changes in the concentration levels of 44 biomarkers that reflected various stages of the disease, Dr. Hathout said.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
"This set of non-invasive biomarkers can be easily used as a readout to monitor disease progression and response to therapies in boys with DMD, and that is our next step in this area of DMD research," Dr. Hathout added.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
Thanks to efforts from the Cooperative International Neuromuscular Research Group, a clinical research network compromised of more than 20 academic and scientific sites based at Children's National, and the Parent Project Muscular Dystrophy, a non-profit advocacy organization, blood samples were collected from hundreds of DMD patients enrolled by clinicians at more than two dozen sites worldwide and made available for this biomarker study.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
Researchers used <a href="http://www.somalogic.com/" rel="nofollow" style="-webkit-print-color-adjust: exact; border-bottom-style: none; border-color: initial; border-left-width: 0px; border-right-width: 0px; border-top-width: 0px; color: #b000b5; font-weight: 600; margin: 0px; outline: 0px; padding: 0px; text-decoration: none;" target="_blank">SomaLogic, Inc.</a> protein measurement technology to identify and verify key blood protein biomarkers. "This is the most comprehensive biomarker study to date and complements previous biomarker studies done on DMD patients," Dr. Hathout said.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The findings should spur a large number of renewed efforts around finding new treatments for DMD, Dr. Hathout added.</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 25.5px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
"We are finding potentially new non-invasive tools to monitor DMD patients and reduce the burden during visits to the clinic," said Dr. Hathout, "and we hope, other rare and debilitating neuromuscular and neurodegenerative diseases."</div>
<div style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
<span style="color: #111111; font-family: Open Sans, Arial, sans-serif;"><span style="font-size: 17px; line-height: 25.5px;">Visit medical news today website for more updates on DMD research http://www.medicalnewstoday.com/releases/294682.php</span></span></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-28697369629818569362015-06-19T10:36:00.003-07:002015-06-19T10:36:13.667-07:00What Are Rare Diseases?<iframe allowfullscreen="" frameborder="0" height="270" src="https://www.youtube.com/embed/UW2ksbsFDcI" width="480"></iframe>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-4870653786461136032015-06-18T03:07:00.002-07:002015-06-18T03:09:30.679-07:00LIMB GIRDLE MUSCULAR DYSTROPHY RESOURCES<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhP31iyED1mYdx7SKDb0gbpF1-HDufMAsxI6TnjiE80MUsuUCDgg2kpbDJPC47-VJEtzrqxaVFAdfPBGdwxv7HJ8oY5fpLC51jictWf6hw2RmcukQLQrxoWXAD-qKYu06RgZCzV38etLsIL/s1600/I-SUPPORT-LGMD.png" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhP31iyED1mYdx7SKDb0gbpF1-HDufMAsxI6TnjiE80MUsuUCDgg2kpbDJPC47-VJEtzrqxaVFAdfPBGdwxv7HJ8oY5fpLC51jictWf6hw2RmcukQLQrxoWXAD-qKYu06RgZCzV38etLsIL/s1600/I-SUPPORT-LGMD.png" /></a></div>
<div>
<br />
LGMD AWARENESS DAY<br />
<br />
The first annual Limb Girdle Muscular Dystrophy day will be held this year on 30th September 2015. It is going to be a global event and muscular dystrophy awareness of Kenya will be a part of the event.</div>
<div>
<br /></div>
<div>
To know more about LGMD you can visit <span style="background-color: #f6f6f6; color: #424344; font-family: Arial, Helvetica, sans-serif; font-size: 11px; line-height: 17.0499992370605px;"> </span><a href="http://www.lgmd-info.org/" style="background-color: #f6f6f6; color: #285d80; font-family: Arial, Helvetica, sans-serif; font-weight: bold; line-height: 17.0499992370605px; text-decoration: none;" target="_blank" title="LGMD Info">LGMD-Info.org</a> the new information ''hub'' for LGMD.</div>
<div>
There you will find information on:</div>
<div>
</div>
<ul>
<li>LGMD Awareness Day</li>
<li>Spotlight Interviews</li>
<li>LGMD Resources</li>
<li>LGMD Organizations</li>
</ul>
<div>
You will also find ways in which you can participate and help us make this day a success.</div>
<br />
<br />
<br />
<div style="-webkit-text-stroke-width: 0px; color: black; font-family: 'Times New Roman'; font-size: medium; font-style: normal; font-variant: normal; font-weight: normal; letter-spacing: normal; line-height: normal; margin: 0px; orphans: auto; text-align: start; text-indent: 0px; text-transform: none; white-space: normal; widows: 1; word-spacing: 0px;">
<br /></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-29614159788698474782015-06-17T06:58:00.000-07:002015-06-17T07:11:32.971-07:00MATATU CREW THAT GOT NAIROBI TALKING BY PAULINE KAIRU DAILY NATION<div class="separator" style="clear: both; text-align: center;">
</div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisV3l-6U6dcykKIr8FZA0eFttPZcN75FQBxy6NdxkgoQYWckRfPsJmpJyI4P4DyXP9-wlIeZ7bbsrmuR-A-3GjBEg5_XY1kQrpxeFlpLbt-xyUwizT4tQXtYTOvZDx_h7QDZ5DWne7CD1e/s1600/Matatu.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="236" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEisV3l-6U6dcykKIr8FZA0eFttPZcN75FQBxy6NdxkgoQYWckRfPsJmpJyI4P4DyXP9-wlIeZ7bbsrmuR-A-3GjBEg5_XY1kQrpxeFlpLbt-xyUwizT4tQXtYTOvZDx_h7QDZ5DWne7CD1e/s320/Matatu.jpg" width="320" /></a></div>
<b>RELAX I GOT YOU</b><br />
<br />
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
Rude, vulgar, nasty, brash, and dubious are words that would be used effortlessly to tell the collective story of matatu operators.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
If you are a regular commuter on Passenger Service Vehicles, then you’ve probably thought of them as conniving thieves too.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
Matatu crews have earned quite a reputation for their unsavoury tendencies; from whimsically hiking fares and hurling insults at their customers at the slightest “provocation” to breaking traffic rules at will.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
Sometimes they have gone as far as assaulting their passengers, or, worse, throwing them off moving vehicles. Some have even ended up behind bars for rubbing their customers the wrong way.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
This is why the story of one matatu crew plying the Nairobi CBD-Kinoo route was so awe-inspiring when it made rounds on Facebook on Wednesday last week.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
On the evening of the same day, we found out why. At exactly 4:30pm, Josphat Maina Mwangi’s van drives through the gates of the National Council for Persons With Disabilities (NCPWD), and Association for the Physically Disabled of Kenya (APDK) offices in Westlands.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
This complex probably has more physically challenged people than any other place in the country. The matatu parks near the foyer.</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
</div>
</div>
<div style="color: #333333; font-family: ColfaxRegular, 'AvantGardeGothicITCW01B 731069', 'Nimbus Sans TW01', Helvetica, sans-serif; font-size: 16px; line-height: 24px;">
<div class="MsoNormal" style="color: grey; font-family: Georgia, 'ITC Century W01 Light'; font-size: 17px; line-height: 25px; margin-bottom: 15.6px;">
<br /></div>
</div>
<div class="separator" style="clear: both; text-align: center;">
</div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com3tag:blogger.com,1999:blog-6594447133371940514.post-20284234399416134122015-06-13T06:25:00.001-07:002015-06-13T06:25:14.497-07:00TREATMENT FOR LGMD<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgmBzdPWzL5ySyfr1LIEY0Pz9NWYc1826gEV2NIC-RXicUD1BiOGPE3AkcYwNmj4KYQOXyUf5EF7hbcFVTovTyxT77Zpp5v5186fgE38reVzW2GAxfqH6dMAyv9j61NmDtl5nsNznmHDCEK/s1600/Body_Front_LGMD.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgmBzdPWzL5ySyfr1LIEY0Pz9NWYc1826gEV2NIC-RXicUD1BiOGPE3AkcYwNmj4KYQOXyUf5EF7hbcFVTovTyxT77Zpp5v5186fgE38reVzW2GAxfqH6dMAyv9j61NmDtl5nsNznmHDCEK/s320/Body_Front_LGMD.jpg" width="131" /></a></div>
<span style="font-family: Verdana, sans-serif; font-size: large;"><b>Is there treatment for LGMD?</b></span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;">There is no available cure for any form of LGMD or any of the other types of muscular dystrophy though researchers have been working round the clock to come up with a cure.</span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;"> The treatments available are aimed at specific symptoms present in each individual.</span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;">This treatments are meant to improve muscle strength and also prevent contractures. The physician can either recommend physical or occupational therapy.</span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;">There are also instances where surgery can be done to correct abnormalities in the skeletal structure such as scoliosis. In some subtypes of LGMDs the heart and respiratory system is involved so it is advisable to see a heart and respiratory specialist.</span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;">To regain independence an individual may also be advised to use assistive devices especially where mobility and balance is an issue. This devices include: canes, braces walkers, scooters and wheelchair. </span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<span style="font-family: Verdana, sans-serif; font-size: large;">NOTE: In a family where a member has been diagnosed with LGMD genetic counselling is advisable so that when planning a family you may know how to go about it and what options are available for you.</span><br />
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-91988153829844644702015-06-12T05:34:00.003-07:002015-06-12T05:34:55.679-07:00LIMB GIRDLE MUSCULAR DYSTROPHY DIAGNOSIS<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjjSJXrvXRt0cwe20-MrkL7uH9xbRiXF9Xu5dk6Xs7W7cRxbIrrNGoixf0ZL4K_3ZHMCS1NoFGbeL2KNV45TQolUZkokqBoAiWsYhpsdYpZDJvJXDlARNbA0Z5uUVmB-T2pm2yMR7e4rbwy/s1600/Body_Front_LGMD.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjjSJXrvXRt0cwe20-MrkL7uH9xbRiXF9Xu5dk6Xs7W7cRxbIrrNGoixf0ZL4K_3ZHMCS1NoFGbeL2KNV45TQolUZkokqBoAiWsYhpsdYpZDJvJXDlARNbA0Z5uUVmB-T2pm2yMR7e4rbwy/s320/Body_Front_LGMD.jpg" width="131" /></a></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">LIMB GIRDLE MUSCULAR DYSTROPHY DIAGNOSIS.<o:p></o:p></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">LGMD is a muscle wasting condition and prior to a
diagnosis most people experience general weakness of the shoulder and pelvic
girdles. LGMD is progressive and to have a diagnosis you will have to under
certain tests. <o:p></o:p></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">The doctor will want to know your medical and family
history first and examine you. The reason why your family history is needed is
to distinguish the pattern of inheritance and to establish whether you are
autosomal dominant or autosomal recessive.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">The doctor will then proceed to conduct a physical
exam and a neurological evaluation to show muscle strength assessment; this
test will show where weakness there is weakness.<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">The tests may include the following:<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoListParagraphCxSpFirst" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<!--[if !supportLists]--><span style="font-family: Wingdings; font-size: 22.0pt; line-height: 115%; mso-bidi-font-family: Wingdings; mso-fareast-font-family: Wingdings;">v<span style="font-family: 'Times New Roman'; font-size: 7pt; font-stretch: normal; line-height: normal;"> </span></span><!--[endif]--><span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">Blood
tests: This test can show raised creatine kinase (ck) levels which may be a
problem in the muscles.CK isa muscle enzyme, which is released into the
bloodstream at high levels when there is muscle fibre damage. Some people also
show elevated CK serum levels. These enzymes are referred to as liver enzymes
people with muscular dystrophy are sometimes diagnosed with liver disease
because of this elevated levels.<o:p></o:p></span></div>
<div class="MsoListParagraphCxSpFirst" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoListParagraphCxSpMiddle" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<!--[if !supportLists]--><span style="font-family: Wingdings; font-size: 22.0pt; line-height: 115%; mso-bidi-font-family: Wingdings; mso-fareast-font-family: Wingdings;">v<span style="font-family: 'Times New Roman'; font-size: 7pt; font-stretch: normal; line-height: normal;"> </span></span><!--[endif]--><span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">Electromyography
(EMG): This test measures the response of muscle to stimulation of its nerve
supply and the electrical activity in the muscle. EMG helps to identify the
type of muscle involved hence it can give an LGMD diagnosis.<o:p></o:p></span></div>
<div class="MsoListParagraphCxSpMiddle" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<div class="MsoListParagraphCxSpLast" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<!--[if !supportLists]--><span style="font-family: Wingdings; font-size: 22.0pt; line-height: 115%; mso-bidi-font-family: Wingdings; mso-fareast-font-family: Wingdings;">v<span style="font-family: 'Times New Roman'; font-size: 7pt; font-stretch: normal; line-height: normal;"> </span></span><!--[endif]--><span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;">Muscle
biopsy: This test is very important because by studying a muscle biopsy we can
clearly know what type of LGMD someone might have. This is mainly so because
this test can show directly the proteins absent or reduced in different types
of LGMD. It should also be noted that the muscle biopsy alone can sometimes not
distinguish between the exact types of LGMD. In these instances genetic testing
should be done.<o:p></o:p></span></div>
<div class="MsoListParagraphCxSpLast" style="mso-list: l0 level1 lfo1; text-indent: -18.0pt;">
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%;"><br /></span></div>
<span style="font-family: "Times New Roman","serif"; font-size: 22.0pt; line-height: 115%; mso-ansi-language: EN-GB; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin;">There are some people
who despite undergoing all the above tests, they do not have a precise LGMD diagnosis</span>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-8145800247377602312015-06-11T05:35:00.002-07:002015-06-11T05:35:45.405-07:00LIMB GIRDLE MUSCULAR DYSTROPHY<table cellpadding="0" cellspacing="0" class="tr-caption-container" style="float: left; margin-right: 1em; text-align: left;"><tbody>
<tr><td style="text-align: center;"><h2>
<br /></h2>
<br /><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjH1VWOYowG-BagSRzN37pYH6A0LnOxv91NWOWvtEHeRj9k693DLPFSyZ773JILYv5Pp_xoef12rAQ3oL_H7pRMDtNhNNkGSmGJcVA7h-emDJzxq5D1o8nmkTOLy4zdWdWlOv2LJ7KpNOzr/s1600/Body_Front_LGMD.jpg" imageanchor="1" style="clear: left; margin-bottom: 1em; margin-left: auto; margin-right: auto;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjH1VWOYowG-BagSRzN37pYH6A0LnOxv91NWOWvtEHeRj9k693DLPFSyZ773JILYv5Pp_xoef12rAQ3oL_H7pRMDtNhNNkGSmGJcVA7h-emDJzxq5D1o8nmkTOLy4zdWdWlOv2LJ7KpNOzr/s320/Body_Front_LGMD.jpg" width="131" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><br /></td></tr>
</tbody></table>
<br /><h4>
<span style="font-size: x-large;">WHAT IS LGMD</span></h4>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;">Limb girdle muscular dystrophy is a group of inherited disorders that progressively affects the pelvic and shoulder girdles making them weak and waste away. LGMDs are rare conditions and they present differently in people.</span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;"><br />
The muscles that are affected are the proximal muscles these muscles are
closest to the body.<br />
LGMD is caused by a mutation in any of at least 15 genes that affect proteins
necessary for muscle function.</span><span style="color: #002060; font-size: 22.0pt;"><o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;"><br />
There are also more than 20 subtypes of LGMD and they are divided into two. We
have autosomal dominant where LGMD is inherited from one parent and autosomal
recessive where the faulty gene is inherited from both parents.</span><span style="color: #002060; font-size: 22.0pt;"><o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;"><br />
The severity, age of onset and features of limb-girdle muscular dystrophy vary
among the many subtypes and even within the same family individuals show
inconsistency in severity.</span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;"><br /></span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<span style="background: white; color: #002060; font-size: 22.0pt;"><br /></span></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<br /></div>
<div style="margin-bottom: .0001pt; margin-bottom: 0cm; margin-left: 0cm; margin-right: 0cm; margin-top: 6.0pt;">
<br /></div>
<div style="color: #000066; margin-bottom: 0pt; margin-top: 1ex;">
</div>
<div class="MsoNormal">
<br /></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-25309659474315496672015-05-15T05:45:00.002-07:002015-06-13T06:26:42.852-07:00Types of therapies for muscular dystrophy<span style="font-family: Verdana, sans-serif; font-size: large;">You may be offered a number of different therapies to help you function in your everyday life.</span><br />
<ul>
<li><span style="font-family: Verdana, sans-serif; font-size: large;">Speech Therapy - This treatment can help in the later stages of muscular dystrophy if weak muscles are making speaking or swallowing difficult for you.</span></li>
</ul>
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<br />
<ul>
<li><span style="font-family: Verdana, sans-serif; font-size: large;">Physical Therapy - Physical therapy programs can help you remain mobile, stretch your tight muscles, and ensure that you do not damage your joints. You may also learn ways to limit your energy use so that you do not become overtired.</span></li>
</ul>
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<br />
<ul>
<li><span style="font-family: Verdana, sans-serif; font-size: large;">Occupational Therapy - This therapy can help you cope with everyday activities. You will learn to use adaptations in your home and special equipment to help you carry out essential tasks. An occupational therapist will also assess your need for mobility aids such as wheelchairs and scooters.</span></li>
</ul>
<span style="font-family: Verdana, sans-serif; font-size: large;"><br /></span>
<br />
<ul>
<li><span style="font-family: Verdana, sans-serif; font-size: large;">Recreational Therapy - This type of therapy focuses on helping you to take part in educational and leisure activities.</span></li>
</ul>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-73366290304993891142015-05-13T04:25:00.000-07:002015-05-13T04:25:02.085-07:00Hope for Muscular Dystrophy Patients<span style="font-family: inherit;">Harnessing gene helps repair muscle damage</span><br />
<span style="font-family: inherit;"><br /></span>
<span style="background-color: white; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;">Researchers have successfully improved the ability of muscle to repair itself -- by artificially increasing levels of the BMI1 gene in the muscle-specific stem cells of mice with muscular dystrophy.</span><br />
<span style="background-color: white; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;">The BMI1 gene has been previously linked to the body's ability to regenerate tissue cells in areas such as blood or skin.</span><br />
<span style="background-color: white; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;"><br /></span>
<div style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px; margin-bottom: 10px;">
Led by Queen Mary University of London and published in the<em style="border-radius: 0px !important; box-sizing: border-box;"> Journal of Experimental Medicine</em>, the study provides the first proof of concept that manipulating the activity of this gene enhances the regeneration of the dystrophic muscle to a level where strength is visibly improved. For example, the mice were able to run on a treadmill for a longer time period and at a faster pace.</div>
<div style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px; margin-bottom: 10px;">
This line of research will now be further developed and scientists aim to one day apply the treatment to patients with chronic muscle wasting such as muscular dystrophy.</div>
<div style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px; margin-bottom: 10px;">
Muscular dystrophy is a devastating and incurable condition. Duchenne Muscular Dystrophy -- the deadliest form of the muscle-wasting disease -- is caused by mutations in a gene which eventually cause muscle fibres to become damaged and waste away.</div>
<div style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px; margin-bottom: 10px;">
Duchenne Muscular Dystrophy is characterised by repeated cycles of muscle damage and repair, resulting in exhaustion of the muscle repair cells. It affects one in 3,500 boys and normally proves fatal by early adulthood.</div>
<div style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px; margin-bottom: 10px;">
Professor Silvia Marino, Lead Author, Queen Mary University of London, comments: "This study has given us the first 'proof of concept' that harnessing the gene BMI1 can significantly enhance the regeneration of dystrophic muscles to a level where strength is visibly improved. We plan to continue our research and hope to establish whether this concept can be successfully applied to patients with muscular dystrophy, but possibly other degenerative conditions or even traumatic muscle damage."</div>
<div id="story_source" style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;">
<div style="border-radius: 0px !important; box-sizing: border-box; margin-bottom: 10px;">
<strong style="border-radius: 0px !important; box-sizing: border-box;">Story Source:</strong></div>
<div style="border-radius: 0px !important; box-sizing: border-box; margin-bottom: 10px;">
The above story is based on <a href="http://www.qmul.ac.uk/media/news/items/smd/146063.html" rel="nofollow" style="background-color: transparent; border-radius: 0px !important; box-sizing: border-box; color: #4c7a9f; text-decoration: none;" target="_blank">materials</a> provided by <a href="http://www.qmul.ac.uk/" rel="nofollow" style="background-color: transparent; border-radius: 0px !important; box-sizing: border-box; color: #4c7a9f; text-decoration: none;" target="_blank"><strong style="border-radius: 0px !important; box-sizing: border-box;">Queen Mary, University of London</strong></a>. <em style="border-radius: 0px !important; box-sizing: border-box;">Note: Materials may be edited for content and length.</em></div>
</div>
<hr style="background-color: white; border-bottom-width: 0px; border-left-width: 0px; border-radius: 0px !important; border-right-width: 0px; border-top-color: rgb(238, 238, 238); border-top-style: solid; box-sizing: content-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; height: 0px; line-height: 20px; margin-bottom: 20px; margin-top: 20px;" />
<div id="journal_references" style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;">
<div style="border-radius: 0px !important; box-sizing: border-box; margin-bottom: 10px;">
<strong style="border-radius: 0px !important; box-sizing: border-box;">Journal Reference</strong>:</div>
<ol class="journal" style="border-radius: 0px !important; box-sizing: border-box; margin: 0px; padding-left: 20px;">
<li style="border-radius: 0px !important; box-sizing: border-box; margin: 0px; padding-left: 5px;">V. Di Foggia, X. Zhang, D. Licastro, M. F. M. Gerli, R. Phadke, F. Muntoni, P. Mourikis, S. Tajbakhsh, M. Ellis, L. C. Greaves, R. W. Taylor, G. Cossu, L. G. Robson, S. Marino. <strong style="border-radius: 0px !important; box-sizing: border-box;">Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy</strong>. <em style="border-radius: 0px !important; box-sizing: border-box;">Journal of Experimental Medicine</em>, 2014; 211 (13): 2617 DOI: <a href="http://dx.doi.org/10.1084/jem.20140317" rel="nofollow" style="background-color: transparent; border-radius: 0px !important; box-sizing: border-box; color: #4c7a9f; text-decoration: none;" target="_blank">10.1084/jem.20140317</a></li>
</ol>
<hr style="border-bottom-width: 0px; border-left-width: 0px; border-radius: 0px !important; border-right-width: 0px; border-top-color: rgb(238, 238, 238); border-top-style: solid; box-sizing: content-box; height: 0px; margin-bottom: 20px; margin-top: 20px;" />
</div>
<div id="citations" style="background-color: white; border-radius: 0px !important; box-sizing: border-box; color: #333333; font-family: 'Helvetica Neue', Helvetica, Arial, sans-serif; font-size: 14px; line-height: 20px;">
<div class="right-tabs clearfix" role="tabpanel" style="border-radius: 0px !important; box-sizing: border-box;">
<div class="pull-left" style="border-radius: 0px !important; box-sizing: border-box; float: left; margin-bottom: 10px;">
<strong style="border-radius: 0px !important; box-sizing: border-box;">Cite This Page</strong>:</div>
<ul class="nav nav-tabs" role="tablist" style="border-bottom-width: 0px; border-radius: 0px !important; box-sizing: border-box; float: right; list-style: none; margin-bottom: 0px; margin-top: 0px; padding-left: 0px;">
<li class="active" role="presentation" style="border-radius: 0px !important; box-sizing: border-box; display: block; float: left; margin-bottom: -1px; position: relative;"><a aria-controls="citation_mla" data-toggle="tab" href="http://www.sciencedaily.com/releases/2015/01/150115102839.htm#citation_mla" role="tab" style="border-color: rgb(221, 221, 221) rgb(221, 221, 221) transparent; border-radius: 4px 4px 0px 0px; border-style: solid; border-width: 1px; box-sizing: border-box; color: #555555; cursor: default; display: block; line-height: 1.42857143; margin-right: 2px; padding: 10px 15px; position: relative; text-decoration: none;">MLA</a></li>
<li role="presentation" style="border-radius: 0px !important; box-sizing: border-box; display: block; float: left; margin-bottom: -1px; position: relative;"><a aria-controls="citation_apa" data-toggle="tab" href="http://www.sciencedaily.com/releases/2015/01/150115102839.htm#citation_apa" role="tab" style="background-color: transparent; border-radius: 4px 4px 0px 0px; border: 1px solid transparent; box-sizing: border-box; color: #4c7a9f; display: block; line-height: 1.42857143; margin-right: 2px; padding: 10px 15px; position: relative; text-decoration: none;">APA</a></li>
<li role="presentation" style="border-radius: 0px !important; box-sizing: border-box; display: block; float: left; margin-bottom: -1px; position: relative;"><a aria-controls="citation_chicago" data-toggle="tab" href="http://www.sciencedaily.com/releases/2015/01/150115102839.htm#citation_chicago" role="tab" style="background-color: transparent; border-radius: 4px 4px 0px 0px; border: 1px solid transparent; box-sizing: border-box; color: #4c7a9f; display: block; line-height: 1.42857143; margin-right: 2px; padding: 10px 15px; position: relative; text-decoration: none;">Chicago</a></li>
</ul>
<div class="tab-content tab-citations" style="border-radius: 0px !important; border-top-color: rgb(221, 221, 221); border-top-style: solid; border-top-width: 1px; box-sizing: border-box; float: left; margin-top: -1px; padding-top: 15px;">
<div class="tab-pane active" id="citation_mla" role="tabpanel" style="border-radius: 0px !important; box-sizing: border-box;">
Queen Mary, University of London. "Hope for muscular dystrophy patients: Harnessing gene helps repair muscle damage." ScienceDaily. ScienceDaily, 15 January 2015. <www.sciencedaily.com/releases/2015/01/150115102839.htm>.</div>
</div>
</div>
</div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-89118380669146026652015-04-09T11:14:00.000-07:002015-04-09T11:14:13.616-07:00POTENTIAL TREATMENT IDENTIFIED FOR MYOTONIC MUSCULAR DYSTROPHY<div class="article_body" style="-webkit-print-color-adjust: exact; background-color: white; border: 0px; clear: left; color: #111111; font-family: 'Open Sans', Arial, sans-serif; font-size: 17px; line-height: 1.5em; margin: 20px 0px 0px; padding: 0px;">
<div itemprop="articleBody" style="-webkit-print-color-adjust: exact; border: 0px; margin: 0px; padding: 0px;">
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
A doctor who was one of the discoverers of the gene responsible for myotonic <a class="keywords" href="http://www.medicalnewstoday.com/articles/187618.php" style="-webkit-print-color-adjust: exact; border-bottom-style: none; border-left-width: 0px; border-right-width: 0px; border-top-width: 0px; color: #b000b5; font-weight: 600; margin: 0px; outline: 0px; padding: 0px; text-decoration: none;" title="What is muscular dystrophy? What causes muscular dystrophy?">muscular dystrophy</a> has now identified a therapeutic that could modify progression of muscle damage and muscle dysfunction associated with the disease - issues that cause patients significant disability and deterioration in quality of life.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The potential treatment is an experimental drug currently being evaluated for treating other conditions, such as <a class="keywords" href="http://www.medicalnewstoday.com/info/rheumatoid-arthritis/" style="-webkit-print-color-adjust: exact; border-bottom-style: none; border-left-width: 0px; border-right-width: 0px; border-top-width: 0px; color: #b000b5; font-weight: 600; margin: 0px; outline: 0px; padding: 0px; text-decoration: none;" title="What is Rheumatoid Arthritis?">rheumatoid arthritis</a>. In lab tests, mice with myotonic dystrophy that were given the treatment had better muscle function in tests such as running on a treadmill and had improved grip strength. In addition, their muscles became healthier and, notably, many even lived longer. While more testing needs to be done, Mani S. Mahadevan, MD, of the University of Virginia School of Medicine, is hopeful about the drug's potential in humans as well.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
"The nice thing about this therapy is that we know that it's already been shown to be safe, because clinical trials have already been done with it for other conditions. That's a big, big hurdle that's been overcome," Mahadevan said. "With a lot of drugs, the problem is that once you do these proof-of-concept studies, the drugs need to be developed a lot further, refined and tested for safety and efficacy. But a lot of that work has been done, so therefore we can leapfrog the development of this therapy so that it can be moved into clinical trials sooner."</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
Mahadevan, of UVA's Department of Pathology, has been conducting pioneering research into the causes of myotonic dystrophy, the most common form of muscular dystrophy, for more than two decades. His work revealed that the condition is caused by an expanding piece of DNA - a mutation that grows worse with each generation. Many people, he noted, do not even realize they have the mutation until a child or grandchild is born with a severe form of the disease.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
In his latest discovery, Mahadevan and his team determined that in both mice and people with myotonic dystrophy, their muscles exhibit excessive activity of a cellular protein called TWEAK and its receptor, Fn14. And not only are the activity levels high in these tissues, they correlate with the severity of the disease symptoms.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
With that discovery, Mahadevan approached the biotech company Biogen Idec, which had a longstanding interest in the TWEAK pathway, to see if the company had a therapy that could block the activity. Biogen Idec had just such a drug in development. After a multi-year collaboration with Biogen-Idec, Mahadevan and his team were able to show that this drug reduced the symptoms of myotonic dystrophy in mice - thus illuminating a path toward the first potential treatment for the debilitating muscle wasting seen in humans.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
The drug has not yet been approved by the Food and Drug Administration, and therefore is not available to patients. The next steps would be for the drug to be tested in myotonic dystrophy patients as part of a clinical trial to determine if it is effective. Mahadevan isn't sure when such a trial might begin.</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
He notes that the drug might be used as a treatment for myotonic dystrophy on its own or possibly in conjunction with other approaches that are in the pipeline. "There's a lot of excitement within the patient community and within the field of researchers who are working on myotonic dystrophy right now," Mahadevan said. "There's a lot of hope."</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
A paper outlining the findings has been published online by the journal <em style="-webkit-print-color-adjust: exact; border: 0px; margin: 0px; padding: 0px;">Human Molecular Genetics</em>. It was authored by Ramesh S. Yadava, Erin P. Foff, Qing Yu, Jordan T. Gladman, Yun K. Kim, Kirti S. Bhatt, Charles A. Thornton, Timothy S. Zheng and Mahadevan.</div>
</div>
</div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
<span style="-webkit-print-color-adjust: exact; background-color: #eeeeee; border: 0px; margin: 0px; padding: 0px;"><i>Adapted by MNT from original media release</i></span><i style="background-color: #eeeeee; font-size: inherit;"> </i></div>
<div style="-webkit-print-color-adjust: exact; border: 0px; font-size: inherit; margin-bottom: 16px; margin-top: 8px; padding: 0px;">
<i>http://www.medicalnewstoday.com/releases/291147.php</i></div>
Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com0tag:blogger.com,1999:blog-6594447133371940514.post-5965876382036333262015-03-17T04:20:00.001-07:002015-03-17T04:22:30.893-07:00 Effective Self-Advocacy<iframe allowfullscreen="" frameborder="0" height="344" src="https://www.youtube.com/embed/K6n3uFdXo2Y" width="459"></iframe>Muscular Dystrophy Awareness Kenyahttp://www.blogger.com/profile/09531059512315445202noreply@blogger.com1