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Introduction
Muscular dystrophy is the term used to describe a
group of inherited disorders that cause progressive
muscle weakness. The most common and severe type is Duchenne's muscular dystrophy (MD), in which a genetic
defect leads to the formation of an abnormal type of
muscle protein called dystrophin. Other types include
Becker's MD, limb-girdle MD, facioscapulohumeral MD,
and myotonic dystrophy.
Causes
The muscular dystrophies are caused by genetic
defects, which means they are inherited at birth. All
forms of this disorder are inherited. Duchenne
muscular dystrophy affects boys almost exclusively
because it is transmitted through the mother's X
chromosome.
Symptoms
Principal symptoms include:
- Progressive muscle wasting, weakness, and loss of
function
- In Duchenne's MD,
delayed development of basic muscle skills and
coordination in children.
- Common signs
include poor balance with frequent falls, walking
difficulty with waddling gait and calf pain, and
limited range of movement
- Joint contractures
- Cataracts, frontal baldness, drooping eyelids, gonadal
atrophy, and mental impairment.
Treatment
There are no cures for any of the muscular
dystrophies and few drugs that have any effect.
Treatment of muscular dystrophy is mainly directed at
preventing the complications of weakness, including
decreased mobility and dexterity, contractures,
scoliosis, heart defects, and respiratory weaknesses.
Treatment is centered on physical and occupational
therapy. However, surgery may be necessary to correct
severe contractures, compensate for shoulder weakness,
correct scoliosis, and to keep the airways open in
cases of sleep apnea. Specific treatments depend upon
the type of muscular dystrophy you have been diagnosed
with.
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