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Dystrophic Myopathies

Muscular dystrophies are debilitating myopathic disor­ders that present with muscle wasting and diffuse mus­cle weakness. They are caused by genetic mutations, which produce muscle fiber necrosis and regeneration, ultimately resulting in muscle fiber loss.

Traditionally, patients with the muscular dystrophies were grouped together because they had similar pathologies, and they were subdivided into categories based upon their modes of inheritance, ages of onset, and distributions of affected muscles. Most types of muscular dystrophy are not purely muscle disorders, but multisystem dis­orders with disease manifestations in a variety of body systems, which may include the musculoskeletal, car­diovascular, pulmonary, and gastrointestinal systems, as well as endocrine system, skin, eyes, brain, and other organ systems. Muscular dystrophies are caused by mutations of the genes encoding for proteins impor­tant for the stability of the sarcolemmal membrane and the maintenance of muscle fiber intracellular homeo­stasis. They are genetically, biochemically, and clini­cally diverse diseases.

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Source: Alexander M.A., Matthews D.J.. Pediatric Rehabilitation: Principles and Practice. 4 th. åd. — New York: Demos Medical Publishing,2010. — 540 ð.. 2010
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