MUSCULAR DYSTROPHY

There are more than 30 genetic diseases in this group. They are all characterized by progressive weakness and degeneration of the muscles that control movement. Some types also affect heart muscle. The muscular dystrophies have a wide range of severity, onset, rate of progression, and muscles involved.

Duchenne MD is the most common form and primarily affects boys. It is caused by the absence of a protein called dystrophin which is essential in maintaining muscle integrity. Symptoms are first noted between the ages of 3 and 5 years and progress rapidly. Many boys are unable to walk by age 12 years. As the disease progresses the muscles that control breathing and the heart muscle are affected. The boy may require a ventilator and heart medicines in the late stages of the disease.

Becker MD is similar to Duchenne MD but is generally milder as some dystrophin is present in the muscles.

Facioscapulohumeral MD usually has its’ onset in the teenage years It also causes progressive weakness of muscles but only in the face, arms, legs, and around the shoulders and chest. It progresses slowly and varies widely in the degree of weakness.

Myotonic MD is the most common adult form although symptoms can be noted from birth. There are two types with type 2 being less severe than type 1. Myotonic MD causes muscle weakness, cataracts, heart abnormalities, and insulin resistance. Symptoms worsen slowly over decades.

There is no specific treatment to halt or reverse any form of MD, although genetic research is ongoing and some promising medications have been developed. Other treatments include physical, occupational, and speech therapies, braces or other devices to support the muscles, and treatment of respiratory and cardiac problems.

Further information is available from the Muscular Dystrophy Association and the International Myotonic Dystrophy Organization

 

 



 

 

 

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