Lip Injections Studied to Help Facial Paralysis in Muscular Dystrophy Patients.

Patients with facial paralysis as a result of muscular dystrophy may benefit from new research conducted at Johns Hopkins University School of Medicine. Kofi Boahene, MD, a facial plastic and reconstructive surgeon in the Department of Otolaryngology-Head and Neck Surgery at Hopkins, led a study that found hyaluronic acid injections are useful in rejuvenating lip strength in patients with muscular dystrophy.

“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 news release from Hopkins. Dr. Boahene worked with colleagues from Hopkins and Stanford to author the study, “Quantifying Labial Strength and Function in Facial Paralysis: Effect of Targeted Lip Injection Augmentation,” which was published in JAMA Facial Plastic Surgery.

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.

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.

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. 

Additionally, a speech therapist determined that patients had markedly improved in their ability to speak and eat and drink without spillage.

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,” said 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.”

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.

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.

Visit: musculardystrophynews.com for more updates on research and breakthroughs.

School pupil carries disabled best friend to lessons for three years and pair get top marks

Friends need to understand...

A kind-hearted school pupil who carried his friend to lessons for three years is celebrating after the pair achieved top marks in exams.

Zhang Chi, 19, suffers from muscular dystrophy, which means he has severely weakened muscles and is unable to get around on his own.

So since 2012, his dedicated pal Xie Xu, 18, has given him a piggyback everywhere he goes at Daxu High School in Jiangsu, China.

The pair live in dorms near the school, where Xie is often seen carrying Zhang to the cafeteria for breakfast.

He also helps him wash his clothes and brings him three meals each day, reports Shanghaiist.

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.

and what's more remarkable the pair are amongst the brightest students in their school after achieving top marks in their exams.

But the duo will soon be splitting when they go to different universities.

Xie has applied for the Nanjing Polytechnic Institute, while Zhang will be sitting China's intensive college exams.

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.

"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."

Their story quickly went viral on Chinese social media site Weibo after tugging on the heartstrings of its users.

One user wrote:

 "We should learn from their friendship. In today's society, Zhang's dedication is especially precious."

Another added: "He's the most beautiful student in China."

Story via:  http://www.standardmedia.co.ke/lifestyle/article/2000159862/school-pupil-carries-disabled-best-friend-to-lessons-for-three-years-and-pair-get-top-marks

Muscular dystrophy children in Kenya strive for hope

MD IS HARD TO PREVENT AND PARENTS FOUND TO BE HAVING
THE GENE ARE ALWAYS ADVISED AGAINST HAVING KIDS.

ELDORET (Xinhua) -- All parents feel passionate about their child. They would do anything and will never stop to believe in their child.

With that kind of feeling no expectant mother would think of having an abnormal or disabled child like developing diseases such as muscular dystrophy.

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.

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.

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.

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.

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.

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.

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.

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.

“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.”

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.

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.

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.

“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.

“That did not offer much help to them as getting their daily meal was still a big problem to their custodian,” he said.

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.

“The day I admitted them into the home is the last day I saw their grandmother and relatives,” said Karuru, during an interview.

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.

At the age of 8, the younger one of the two boys Dungere also started developing similar symptoms as seen in his elder brother.

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.

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.

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.

Dr. Lelei Kibor, a specialist orthopedic surgeon at St. Lukes Orthopedics and Trauma Hospital is handling Kahinga and Dungere’s cases.

He explained that there are several major forms of MD, which can affect the muscles to varying degrees.

When Muscular Dystrophy Is Personal — And Global

Facioscapulohumeral muscular dystrophy (FSHD)

By Fred Thys
Guest Contributor

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.

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.

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.

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.

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.

Enter: Chris Chege

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.

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.

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.”

The television journalists, Chege says, report that the families he sees on television with the symptoms of FSHD are bewitched.

“The way they walk I can tell that’s muscular dystrophy,” he said.

His own condition was a mystery to him for nearly twenty years.

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.”

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.

Chege decided on his own to see a doctor, who gave him medication that produced “a lot” of side effects on him, he said.

There are no medications approved anywhere for the treatment of FSHD.

It was not until the year 2000, at the age of 34, that he was diagnosed with muscular dystrophy.

“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.

So most of the time, Chege said, he sits at home.

“It’s actually very, very harsh in Africa,” he said.

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

Chege found out about the FSH Society’s biannual conferences that bring together patients, their families, and researchers.

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.

“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.

2010 Hearne Award Honoree: Lawrence Carter-Long

Researchers uncover novel blood biomarkers to better monitor therapy effectiveness for Duchenne Muscular Dystrophy

Children's National Health System researchers and other teams have uncovered a wide range of blood biomarkers in patients with Duchenne Muscular Dystrophy (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.

The collaborative study involving academic, industry, and patient advocacy scientists was published in the Proceedings of the National Academy of Sciences.

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 inflammation for a couple of years, but cannot cure the disease.

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.

"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."

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.

"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.

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.

Researchers used SomaLogic, Inc. 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.

The findings should spur a large number of renewed efforts around finding new treatments for DMD, Dr. Hathout added.

"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."

Visit medical news today website for more updates on DMD research http://www.medicalnewstoday.com/releases/294682.php

What Are Rare Diseases?

LIMB GIRDLE MUSCULAR DYSTROPHY RESOURCES

LGMD AWARENESS DAY

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.

To know more about LGMD you can visit  LGMD-Info.org the new information ''hub'' for LGMD.

There you will find information on:

• LGMD Awareness Day
• Spotlight Interviews
• LGMD Resources
• LGMD Organizations

You will also find ways in which you can participate and help us make this day a success.

MATATU CREW THAT GOT NAIROBI TALKING BY PAULINE KAIRU DAILY NATION

RELAX I GOT YOU

Rude, vulgar, nasty, brash, and dubious are words that would be used effortlessly to tell the collective story of matatu operators.

If you are a regular commuter on Passenger Service Vehicles, then you’ve probably thought of them as conniving thieves too.

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.

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.

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.

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.

This complex probably has more physically challenged people than any other place in the country. The matatu parks near the foyer.

TREATMENT FOR LGMD

Is there treatment for LGMD?

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.

 The treatments available are aimed at specific symptoms present in each individual.

This treatments are meant to improve muscle strength and also prevent contractures. The physician can either recommend physical or occupational therapy.

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.

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. 

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.

LIMB GIRDLE MUSCULAR DYSTROPHY DIAGNOSIS

LIMB GIRDLE MUSCULAR DYSTROPHY DIAGNOSIS.

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.

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.

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.

The tests may include the following:

v      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.

v      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.

v      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.

There are some people who despite undergoing all the above tests, they do not have a precise LGMD diagnosis

LIMB GIRDLE MUSCULAR DYSTROPHY

WHAT IS LGMD

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.

The muscles that are affected are the proximal muscles these muscles are closest to the body.
LGMD is caused by a mutation in any of at least 15 genes that affect proteins necessary for muscle function.

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.

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.