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Introduction to Inherited Muscular Disorders

By Michael Rubin, MDCM, Weill Cornell Medical College;New York Presbyterian Hospital-Cornell Medical Center

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Muscular dystrophies are inherited, progressive muscle disorders resulting from defects in one or more genes needed for normal muscle structure and function. Duchenne dystrophy is the most common and severe form of muscular dystrophy. Becker dystrophy, although closely related, has a later onset and causes milder symptoms (see Duchenne Muscular Dystrophy and Becker Muscular Dystrophy). Other forms include Emery-Dreifuss dystrophy, myotonic dystrophy, limb-girdle dystrophy, facioscapulohumeral dystrophy, oculopharyngeal muscular dystrophy, and congenital dystrophies (see Other Forms of Muscular Dystrophy). Muscular dystrophies are distinguished by the selective distribution of weakness and the specific nature of the genetic abnormality involved.

Other inherited muscular disorders include congenital myopathies (see Congenital Myopathies) and familial periodic paralysis (see Familial Periodic Paralysis).

Inherited metabolic disorders affecting the muscles, such as disorders of mitochondrial oxidative phosphorylation and glycogen storage diseases, are discussed in Inherited Disorders of Metabolism. Only those disorders that have all or most of their effects on muscle are discussed in this chapter.

* This is the Professional Version. *