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.
There is no specific treatment to stop or reverse any form of MD. Treatment may include:
Drug therapy includes:
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 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.
Duchenne MD (DMD) is the most common form of MD, affecting one in 4000 males. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle.
DMD primarily affects boys. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.
Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children.
Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
The average life expectancy for patients afflicted with DMD varies from late teens to early to mid 20s. There have been reports of a few DMD patients surviving to the age of 40, but this is extremely rare.
Facioscapulohumeral MD causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Facioscapulohumeral MD usually begins in the teenage years.
Life expectancy is normal, but up to 15% of affected individuals become severely disabled and eventually must use a wheel chair.
Myotonic MD is the disorder's most common adult form, although Myotonic dystrophy can occur in patients of any age.
It is typified by:
Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.