MD1.jpgWhat is Muscular Dystrophy?

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Like other diseases, there is a whole spectrum of possibilities, as each case is different.

What causes it?


People with MD have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. Dystrophin is a common protein that people with Duchenne Muscular Dystrophy lack. Because MD is genetic, people are born with the problem — it's not contagious and you can't catch it from someone who has it.

Is there any treatment?


There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. The hardest part about this disease is that it is progressive, meaning that it only gets worse and there is no plateau for the person to work from. As stated by the speaker, her son loses the ability to do something every week. This aspect is what makes it so hard for people.

What is the prognosis?


The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.

Symptoms of Muscular Dystrophy


  • Muscle weakness
  • Lack of coordination
  • Progressive crippling, resulting fixations in the muscles around your joints and loss of mobility
  • Frequent falls
  • Large calf muscles
  • Difficulty getting up from sitting
  • Weakness in lower leg muscles which makes it a lot more difficult to run and jump
  • Waddling gait
  • Mild mental retardation

Most symptoms of DMD appear between the ages 2-6. It affects the muscles of the pelvis, upper arms and upper legs. By late childhood most children with DMD are unable to walk. Most die by late teens or early 20s, often from pneumonia, muscles weakness or cardiac complications.
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Inheritance of Muscular Dystrophy


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Different Types of Muscular Dystrophy


There are nine major types of muscular dystrophy according to the age that the symptoms appear, location of muscles involved, the manner in which the defective gene is passed on and the rate that symptoms progress.

Type
Age at Onset
Symptoms, Rate of Progression, and Life Expectancy
Becker
adolescence to early adulthood
Symptoms are almost identical to Duchenne but less severe; progresses more slowly than Duchenne; survival into middle age.
Congenital
birth
Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
Duchenne
2 to 6 years
Symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare.
Distal
40 to 60 years
Symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.
Emery-Dreifuss
childhood to early teens
Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems.
Facioscapulohumeral
childhood to early adults
Symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow, with periods of rapid deterioration; life span may be many decades after onset.
Limb-Girdle
late childhood to middle age
Symptoms include weakness and wasting, affecting shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications.
Myotonic
20 to 40 years
Symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects face, feet, hands, and neck first; progression is slow, sometimes spanning 50 to 60 years.
Oculopharyngeal
40 to 70 years
Symptoms affect muscles of eyelids and throat causing weakening of throat muscles, which, in time, causes inability to swallow and emaciation from lack of food; progression is slow.
http://www.healthsystem.virginia.edu/uvahealth/adult_neuro/musctype.cfm

MDA Summer Camp


Formed in 1955, the MDA Summer Camp has helped make an unforgettable week for children with muscular dystrophy. Camper themselves say, "the best week of my year". Each year MDA supports 90 summer camps across the country. MDA is a camp where year-round skills are developed to where a kid with MD can be just a normal kid. Each camper has his on one-on-one volunteer, who helps with all aspects of both fun and personal care.

Activities:
  • swimming
  • hockeyMDA_summer_cmap.jpg
  • baseball
  • soccer
  • football
  • horseback riding
  • fishing
  • music
  • cooking
  • arts and crafts
  • movies
  • dancing
  • talent shows
  • Harley-Davidson motorcycle side car rides

Famous People With Muscular Dystrophy

  • Jerry Lewis- Comedian

There are not many famous people with Muscular Dystrophy because they often do not live long enough to become famous.

National research and support in the USA

Within the United States, the three primary federally funded organizations that focus on Muscular Dystrophy include the National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Child Health and Human Development (NICHD).[4]
In 1966, the Muscular Dystrophy Association began its annual Jerry Lewis MDA Telethon, which has arguably done more to raise awareness of muscular dystrophy than any other event or initiative.
On December 18, 2001 the MD CARE Act was signed into law and amends the Public Health Service Act to provide research for the various muscular dystrophies. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy.

Duchenne and Our Child- Muscular Dystrophy From A Parent's Perspective





Statistics


  • Duchenne Muscular Dystrophy occurs in about 1 in 3,500 male births, and affects approximately 8,000 boys and young men in the United States. This is the most common form of muscular dystrophy.
  • Becker MD occurs in about one in 30,000 male births.
  • Emery-Dreifuss MD is very rare: only 300 cases have been identified
  • At one point, myotonic dystrophy was the most common form of muscular dystrophy, affecting more than 30,000 people in the United States.
  • Other types of MD are rare, but still occur, so it is important to be aware of these.

Related Links

Extensive Info on Muscular Dystrophy
Basic Facts on Muscular Dystrophy
Possible Treatment for MD