Adult onset mixed myopathy

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Myopathy is a disease of the muscle [1] in which the muscle fibers do not function properly. This results in muscular weakness. This meaning implies that the primary defect is within the muscle, as opposed to the nerves " neuropathies " or " neurogenic " disorders or elsewhere e.

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Congenital myopathy is a term sometimes applied to hundreds of distinct neuromuscular disorders that may be present at birth, but it is usually reserved for a group of rare, inherited, primary muscle disorders that cause hypotonia and weakness at birth or during the neonatal period and, in some cases, delayed motor development later in childhood. Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually present from birth, with a static or slowly progressive clinical course. Although muscular dystrophies are also genetic disorders causing muscle weakness, they differ from congenital myopathies in age of onset, distribution of affected muscles, and the presence of characteristic dystrophic changes eg, muscle fiber necrosis and regeneration not present in biopsy specimens from congenital myopathies.

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Myopathy refers to a clinical disorder of the skeletal muscles. Abnormalities of muscle cell structure and metabolism lead to various patterns of weakness and dysfunction. In some cases, the pathology extends to involve cardiac muscle fibers, resulting in a hypertrophic or dilated cardiomyopathy.

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Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes mutations interfere with the production of proteins needed to form healthy muscle. There are many different kinds of muscular dystrophy.

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Journal of Neurology. A woman, aged 75 years, presented with a year history of progressive, generalized, painful muscle weakness and wasting. Clinical and laboratory investigation revealed a sporadic muscle disorder.

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If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. The term myopathy refers to a muscle fiberdisorder that can have a variety of etiologies. Myopathies present as pure motor syndromes without any disturbance of sensory or autonomic function.

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Walter, P. Reilich, A. Huebner, D.

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