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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0026846|muscle atrophy
Sentences 10
PubMedID- 25740800 Critical illness myopathy (cim) is associated with severe muscle atrophy and fatigue in affected patients.
PubMedID- 24083177 [315] chronic myopathy can lead to muscle atrophy that regresses only after a matter of weeks or months.
PubMedID- 21860784 Myositis and myopathy with muscle atrophy are seen in some thymoma mg patients [22].
PubMedID- 22053194 Mutations in the fhl1 gene are causative for several types of hereditary myopathies including x-linked myopathy with postural muscle atrophy (xmpma).
PubMedID- 21932316 Fhl1 mutations cause emery-dreifuss muscular dystrophy (omim 310300), x-linked myopathy with postural muscle atrophy (xmpma, omim 300696), scapuloperoneal myopathy (omim 300695), or reducing body myopathy (omim 300717, 300718).
PubMedID- 20874719 Five other fhl1 mutations were discovered to be causal for x-linked myopathy with postural muscle atrophy (xmpma), clinically characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups were hypertrophic [39].
PubMedID- 22923418 Background: x-linked myopathy with postural muscle atrophy is a novel x-linked myopathy caused by mutations in the four-and-a-half lim domain 1 gene (fhl1).
PubMedID- 22172421 Important new characterizations include 4 distinct human myopathies: reducing body myopathy, x-linked myopathy with postural muscle atrophy, emery-dreifuss muscular dystrophy, and scapuloperoneal myopathy.
PubMedID- 26525066 Therefore, we suggest that progressive long-term resistance exercise training could be used as a therapeutic strategy in myopathy with muscle atrophy to improve muscle function and strength.
PubMedID- 22028589 Human mutations in fhl1 have been identified in patients affected by x linked myopathy with postural muscle atrophy (xmpma, probably a form of emery dreyfuss muscular dystrophy) [64] and scapuloperoneal (sp) syndrome [65] as well as in patients with reducing body myopathy (rbm).

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