Pathogenesis of Muscular Dystrophies

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Abstract
The clue to the pathogenesis of muscular dystrophies is believed to lie in a disorder of muscle. Recently, however, evidence is being presented that other myogenic factors might be involved. Several hypotheses have gained popularity. An old hypothesis attributes dystrophies to a primary degenerative process of skeletal muscle.1Support for this view comes from autopsy studies that have shown that the central nervous system is intact and that abnormalities in patients dying from the disease are confined to muscle. NEUROGENIC HYPOTHESIS The diagnosis of muscular dystrophy is often made clinically. Some patients thought to have the limb girdle or facioscapulohumeral types of dystrophies have, on morphologic examination, been shown to suffer from spinal muscular atrophy or Kugelberg-Welander syndrome. In such cases, the histological study of muscle may add to the confusion because of so-called "secondary myopathic" changes, but these disorders are clearly neurogenic.2,3Evidence that muscular dystrophy of