INTERNATIONAL DAY OF PERSONS WITH DISABILITY

Today being the day set aside for persons with disability globally we at MUDAK would like to thank the Government of Kenya for the efforts being made to ensure representation of persons with disability in the Government. That being so we are not forgetting persons living with muscular dystrophy who continually need assistance of care givers as the muscle weakness progresses.
We hope that all who need care will be able to get it when the need arises.

 2014 theme · Sustainable Development: The Promise of Technology

This year the International Day of Persons with Disabilities will focus on the role of technology in:
- Disaster Risk Reduction and Emergency Responses
- Creating Enabling Working Environments
- Disability-Inclusive Sustainable Development Goals
The annual observance of the International Day of Disabled Persons was proclaimed in 1992, by the United Nations General Assembly resolution 47/3. The observance of the Day aims to promote an understanding of disability issues and mobilize support for the dignity, rights and well-being of persons with disabilities. It also seeks to increase awareness of gains to be derived from the integration of persons with disabilities in every aspect of political, social, economic and cultural life. 

Since 2009, the Department of Economic and Social Affairs organizes a film festival as a part of the events at UN Headquarters to commemorate the Day. The United Nations Enable Film Festival (UNEFF) includes short disabilty-related films selected on the basis of their content and message that can help raise awareness of disability issues and further promote the full and effective participation of persons with disabilities in society.

Happy International Day of persons with disability to all living with muscular dystrophy and a cure for MD is all we seek and want this day.` 

LGMD2A ADAPTIVE LIVING

These are some of the devices that can help someone with a progressive disorder like muscular dystrophy gain some independence. With the progressive nature of MD an individual is no longer able to do the things some take for granted like bathing, cooking, dressing or even eating.

These devices can help one live an active productive life. They may also seem expensive to purchase but let's not forget this is a one time purchase so you have to think of what will work best for you... 

SCOLIOSIS AND MUSCULAR DYSTROPHY

Scoliosis or curvature of the spine affects many individuals with nerve and muscle disease.

This mostly happens to people with muscular dystrophy because muscles of either side of the spine show weakness.

CAUSES

• Congenital scoliosis: caused by a defect at birth.
• Neuromuscular scoliosis: caused by abnormal muscles or nerves.
• Degenerative scoliosis: this may result from trauma, bone collapse, back surgery or osteoporosis
• Idiopathic scoliosis: has no identifiable cause but evidence show that it might be inherited. 

TREATMENT

• Bracing: This treatment is common to adolescents who have scoliosis of about 25- 40 degrees,especially if they are still maturing. In muscular dystrophy this type of treatment is normally done to boys with duchenne.

• Surgery: those who have curves above 50 degrees are normally scheduled for surgery. The ultimate goal is to make sure the curve does not worsen but this does not straighten  the spine. Metallic rods are placed on each side of the spine to keep it straight.

Scoliosis can also bring about complications in breathing, if the curve deforms the ribs this eventually affects the lungs. When the spine curves pain and discomfort is also felt due to the stretched ligaments and tissues especially if an individual has backache it can lead to that person being bedridden.

If you have muscular dystrophy it is advisable to stay active as much as possible and follow the routine exercises your doctor has designed for you, this is so because one exercise routine may be detrimental to another.

WHEN YOUR MUSCLES TWITCH

MUSCLE TWITCHING is also known as muscle fasciculation. This involves small muscle contractions in the body,
Our bodies are comprised of fibres, tissues and nerves and normally when they are stimulated or damaged the muscle fibres twitch. Muscle twitches are minor and often go unnoticed.
They are often felt in the eyelids, calf and thumb.

Conditions that muscle twitching is common include:

• muscular dystrophy
• Lou Gehrig's disease (a rare disease that causes your nerve cells to die)
• spinal muscular atrophy
• Isaac's syndrome (an autoimmune disorder affecting the nerves)
• any trauma to a nerve leading to a muscle
• muscle wasting or weakness

Muscle twitching is not a serious medical emergency but it is advisable to seek medical advice when twitching becomes persistent or chronic.

How to manage twitching at home: 

• Take a balanced diet.
• Limit your caffeine intake
• Adequate sleep is recommended
• Manage your stress levels

When the symptoms are persistent the doctor may order either of the following tests:

• Blood tests to look for problems with electrolytes, thyroid gland function, and blood chemistryCT scan of the spine or brain
• Electromyogram (EMG)
• Nerve conduction studies
• MRI scan of the spine or brain

Many people think that when a twitch occurs it is blood flowing with too much  pressure because twitching can be felt under the skin.

BECKER MUSCULAR DYSTROPHY

Over View
Becker muscular dystrophy is a genetic condition that causes your muscles to become damaged and weakened over time, resulting in loss of muscle tissue. If you have this condition, you could begin to experience problems walking around age 16. Becker muscular dystrophy usually affects boys, with symptoms appearing between age 5 and 15. There is more than one type of muscular dystrophy, and Becker is similar to another type known as Duchenne. Becker is less severe and it is also a rare disease.
This week has been dedicating to create awareness of BMD by the MD community not forgetting to raise funds for this muscle wasting condition.

 CAUSES.
BMD is caused by an abnormal gene that is responsible foor making a protein called dystrophin. Dystrophin helps the body by keeping the muscle cells intact: without dystrophin your muscles cannot contract well. An individual can inherit the abnormal gene or it can appear even where there is no family history. The disease almost always affects males though it can occur in females. You are at a higher risk if you have relatives with the condition.

SYMPTOMS OF BMD
Symptoms occur in childhood but they can also appear in adulthood. the signs of BMD include:

• delays in walking and running for young children
• unexplained clumsiness
• cramps during exercise
• difficulty participating in sports at school
• weak muscles near your torso
• enlarged calf muscles
• difficulty lifting weights and climbing stairs
• falling and finding it hard to get up again
• eventually, loss of the ability to walk
• heart problems
• learning and behavioral difficulties

Most people with the condition can walk until at least age 16, but for some people, the disease develops later in life. Those sufferers might be able to walk until their twenties or, in some cases, their forties. Females do not usually experience symptoms.

DIAGNOSIS

Your doctor will examine you thoroughly, looking for deformed muscles and bones, abnormal heart rhythms, and muscle loss. The doctor may order a number of tests, including:

• blood tests to measure the levels of enzymes released from damaged muscles
• electrical stimulation of nerves to measure your muscle function
• a muscle tissue sample to check for signs of muscular dystrophy
• gene analysis to look for an abnormal dystrophin gene
• tests of your heart and lung function
• X-rays of your spine

TREATMENT

There is no cure for muscular dystrophy. Treatment aims to support you and improve your quality of life.

MEDICATION
You may be given steroids. Steroids may help some sufferers continue walking for longer than they would without treatment.

SURGERIES
Sometimes, due to Becker muscular dystrophy, your muscles may become permanently shortened, or contracted, and surgery may be necessary to release and lengthen them.
If your spine becomes deformed, you may also need surgery to realign it.

Other treatments
If you have heart problems, you may need a pacemaker to regulate your heartbeat. In the case of respiratory difficulties, you may need to use special equipment to help you breathe normally.

THERAPY
You may be offered a number of different therapies to help you function in your everyday life.

• Speech Therapy - This treatment can help in the later stages of muscular dystrophy if weak muscles are making speaking or swallowing difficult for you.
• 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.
• 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.
• Recreational Therapy - This type of therapy focuses on helping you to take part in educational and leisure activities.

OUTLOOK

Becker muscular dystrophy typically gets worse over time and reduces life expectancy. The majority of patients live between 40 and 50 years. The outlook is different for each individual because the disease can vary in its severity. Heart problems and breathing difficulties are the major complications for people with this condition.

FAMILY PLANNING

If you have relatives with Becker muscular dystrophy, you should seek genetic counseling if you are thinking of starting a family. This is important whether you are male or female, as women can carry the defective gene without having the condition. A specialist can help you assess the risk of having a child with the condition and explain the various tests and choices available to you.

This information is by JULIE RODDICK-Healthline website

REACHING OUT

A few years ago it wasn't easy to explain to people in Kenya what muscular dystrophy entailed and what type of condition it was. A lot has  changed recently and many people are now getting familiar with  the condition.

Muscular dystrophy is an inherited condition that affects the muscles making them weak and waste away over time. MD is not arthritis, multiple sclerosis or polio. The three affect mobility but they are not muscle wasting conditions.

We appreciate the efforts made by those affected with MD in Kenya for they are all creating awareness in their individual rights which is a good thing.

We are reaching out to every one affected by MD in Kenya and our efforts have born fruit. The membership is growing from Nairobi, Nanyuki, Thika, Nyeri, Mombasa to Kisumu.

It wasn't easy, the journey has just began. We look forward to offer support to those who need our help and not dwell on awareness only.

AMAZING GRACE-State of muscular dystrophy in Kenya

WORLD DUCHENNE AWARENESS DAY

This is the first WORLD DUCHENNE AWARENESS DAY and September being the month set  aside to create awareness about muscular dystrophy, it our duty at Mudak to continue with our work of creating awareness.

Duchenne. The most common form of muscular dystrophy in children,
Duchenne muscular dystrophy affects only males. 
It appears between the ages of 2 and 6. Difficulties may arise during diagnosis especially where there is no family history.
 There is usually delay in growth the first steps of a child with DMD may occur at around 18 months.
 A boy with DMD may fall frequently and often has difficulty climbing stairs, jumping, running and may also develop a waddling gait. 

With the current breakthroughs in research, there is light beyond the tunnel and cure is in the horizon. Muscular dystrophy is a challenge to the whole family because each family member is affected in one way  or the other.

In Kenya hopefully things will change for the better for all living with muscular dystrophy. Young boys with duchenne need specialized care so that their lifespan can be increased.
This day should not go to waste....  

The Duchenne Timeline- WORLD DUCHENNEAWARENESS DAY

WHO DISCOVERED MUSCULAR DYSTROPHY?

Guillaume-Benjamin-Amand Duchenne (de Boulogne) discovered Muscular Dystrophy. In fact, the original name of this disease was Duchenne Muscular Dystrophy, named in his honor. He also discovered several other diseases such as Duchenne’s disease (Tabes dorsalis), Duchenne-Aran spinal muscular atrophy, Duchenne’s paralysis (Progressive bulbar palsy) and Duchenne-Erb paralysis.

Introduced a lot of new concepts

Duchenne de Boulogne, a French neurologist, was born on September 17^th, 1806 in Boulogne-sur-Mer, France. He based his work primarily on the works of Luigi Aloisio Galvani, a famous Italian scientist and advanced the research to a great extent. Duchenne’s work has introduced a lot of new concepts in the field of neurology including the conductivity of neural pathways and the effects of lesions. He also introduced various modern diagnostics such as nerve conduction tests, deep tissue biopsy and clinical photography.

Introduced electrotherapeutics and electrophysiology

He attended a local college in Douai and later studied medicine. During 1827 to 1831, he worked under some famous physicians and neurologists of that time and he later on started to practice medicine. From 1835, he started to experiment with therapeutic “electropuncture”, a method in which electricity was used to stimulate muscle tissues. Although his methods were quite unorthodox, he was considered as one of the inventors of electrotherapeutics and electrophysiology.

His works are famous

He work included the famous “the Mechanism of Human Physiognomy”, which was a result of extensive research on how the muscles on a human face produces facial expressions. He published several works based on his findings and research. A lot of neurologists and scientists have been influenced by his work and have mentioned him in their research. For example, in his work “The Expression of the Emotions in Man and Animals”, Charles Darwin mentioned the works published by Duchenne.

BENEFITS OF STAYING ACTIVE

Having a safe plan and exercise regimen is key especially when you have a muscle wasting condition. Some exercises may not be appropriate to other types of muscular dystrophy. Muscular dystrophy is a degenerative muscle disease which means muscles cannot regenerate or repair normally.

Vigorous exercise can damage muscles permanently so mild and moderate exercise is advised because some types of muscular dystrophy affect the proper functioning of the heart e.g. DMD, BMD, LGMD, EDMD and myotonic MD.

Regular exercise can improve balance and proper coordination which eventually leads to a quality life. It is understandable when most people with MD do not want to exercise because of loss of muscle bulk and the awkward feeling of being heavy but that should not be a reason for one to be a couch potato.

WHAT TO DO:

• First the best thing to do is talk to your healthcare provider be it a general practitioner, occupational therapist or physical therapist.
• Never stop medication without consulting your doctor first.
• To maintain flexibility and avoid cramping of muscles, stretching will do a perfect job here.
• Do not strain yourself , take frequent breaks.
• Do an exercise that you enjoy and if walking becomes difficult try swimming, cycling and chair activities.
• If your fitness level is low, follow a short session of 10-15 minutes four to six days per week.

CAUTION:

• Individuals with Myotonic MD, Myotonia congenita and paramyotonia congenita should not exercise in cold water.
• Avoid exercising alone, drink plenty of fluids and avoid exercise in hot and humid conditions.
• If the heart's pumping ability or rhythm is affected by the disease, sudden strenuous exercise could trigger an acute heart problem, respiratory problem or even death.

The benefits of exercise should out weigh the risks and a perfect exercise plan is one that suits your needs.

DUCHENNE MUSCULAR DYSTROPHY

Discovery of new form of dystrophin protein could lead to therapy for some Duchenne muscular dystrophy patients

Scientists have discovered a new form of dystrophin, a protein critical to normal muscle function, and identified the genetic mechanism responsible for its production. Studies of the new protein isoform, published online Aug. 10 in Nature Medicine and led by a team in The Research Institute at Nationwide Children's Hospital, suggest it may offer a novel therapeutic approach for some patients with Duchenne muscular dystrophy, a debilitating neuromuscular condition that usually leaves patients unable to walk on their own by age 12.

Duchenne muscular dystrophy, or DMD, is caused by mutations in the gene that encodes dystrophin, which plays a role in stabilizing the membrane of muscle fibers. Without sufficient quantities of the protein, muscle fibers are particularly susceptible to injury during contraction. Over time, the muscle degenerates and muscle fibers are slowly replaced by fat and scar tissue. Many different types of mutations can lead to DMD, some of which block dystrophin production altogether and others that result in a protein that doesn't function normally.

In 2009, a team led by Kevin Flanigan, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children's, published two studies describing patients whose genetic mutation was located in a exon 1, at the beginning of the gene. This mutation should have made natural production of functioning dystrophin impossible, resulting in severe disease. However, the patients had only minimal symptoms and relatives carrying the same mutations were identified who were walking well into their 70s. Muscle biopsies revealed that, despite the genetic mutations, the patients were producing significant amounts of a slight smaller yet functioning dystrophin. In the 2009 studies, Dr. Flanigan's group demonstrated that translation of this dystrophin did not begin in exon 1, as usual, but instead began later in the gene in exon 6, although the mechanism controlling this alternate translation remained unknown.

In their latest study, Dr. Flanigan's team has found the explanation. In order to utilize the protein-building instructions they carry, exons are first transcribed into a final genetic blueprint called messenger RNA. Under normal conditions, the messenger RNA is marked at its very beginning by a special molecular cap that is critical for recruiting ribosomes, the cellular structures responsible for translation of the gene into a protein. Most cases of DMD are due to mutations that interrupt the translational activity of ribosomes.

In explaining the mild symptoms seen in many patients with mutations in the first exons of the dystrophin gene -- including the group of patients they first described in 2009 -- the researchers have now demonstrated that dystrophin can be produced by an alternate cellular mechanism in which capping of the messenger RNA is not required. This newly described mechanism makes use of an internal ribosome entry site, or IRES, found within exon 5 in the dystrophin gene, allowing initiation of protein translation within exon 6 that can then proceed in the normal fashion along the rest of the gene.

"This alternate translational control element is encoded within the dystrophin gene itself, in a region of the gene that evolution has highly conserved," Dr. Flanigan said. "This suggests that the dystrophin protein that results from its activation plays an important but as of yet unknown role in cell function -- perhaps when muscle is under cell stress, one of the conditions under which IRES elements are typically activated."

Although clinical trials are currently investigating drugs to treat the more common gene mutations found in the middle of the dystrophin gene, no current therapies are specifically directed toward the approximately 6 percent of patients with mutations affecting the first four exons. Although many of these patients have relatively mild disease, many others have much more severe symptoms. If scientists could figure out a way to activate IRES in those patients, they may be able to produce enough dystrophin to lessen muscle degeneration, Dr. Flanigan said.
To study that possibility, his team is developing different approaches to trigger the IRES, using a new DMD mouse model they have developed. One of these approaches, called exon skipping, is based on the removal of an exon early in the gene in order to mimic the IRES-activating mutations found in minimally affected patients.

"Rather than intending this as a personalized therapy, we are developing this as a tool that could be used for all patients harboring a mutation within the first few exons of dystrophin," said Nicolas Wein, PhD, lead author of the new study and a postdoctoral scientist in the Center for Gene Therapy at Nationwide Children's. "Using this approach, we have already shown that we are able to restore running ability in our new mouse model of DMD. We hope to translate this into clinical trials in DMD patients in the future."

Via ScienceDaily, 10 August 2014.

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