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What 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.
Duchenne MD
is the most common form of MD and primarily affects boys.
It is caused by the absence of dystrophin, a protein involved
in maintaining the integrity of muscle. 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.
Facioscapulohumeral MD
usually begins in the teenage years. It 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.
Myotonic MD
is the disorder's most common adult form and is typified
by prolonged muscle spasms, cataracts, cardiac abnormalities,
and endocrine disturbances. Individuals with myotonic MD
have long, thin faces, drooping eyelids, and a swan-like
neck.
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.
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.
To read the rest of this article from the National Institute
of Neurological Disorders and Stroke, please click here:
http://www.ninds.nih.gov/disorders/md/md.htm
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