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Muscular Dystrophy and the Family
Muscular dystrophies are genetic diseases of muscle that are characterized by progressive muscle wasting and weakness. There are more than 40 distinct muscular dystrophies including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD), the myotonic muscular dystrophies (MMD), and the limb-girdle muscular dystrophies (LGMD). This entry discusses the causes of muscular dystrophies and the burdens these disorders have on families, including adjusting to the diagnosis and optimizing care.
Etiology and Epidemiology of Muscular Dystrophies
DMD is inherited in an X-linked manner and has the highest incidence of the muscular dystrophies, affecting 1 in 3,600 to 6,000 male births. Mutation in the gene for dystrophin results in the absence of this protein, causing progressive muscle degeneration early in life. Typically, the signs of muscle ...
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