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Nervenarzt. 2007 Apr;78(4):387-92.

[Central core myopathy: a juvenile and adult disease].

[Article in German]

Author information

  • 1Muskellabor der Neurologischen Universit√§tsklinik Ulm, Oberer Eselsberg 45, 89081 Ulm, Deutschland. hans-juergen.gdynia@uni-ulm.de

Abstract

Central core myopathy is a nonprogressive or only slowly progressive congenital muscle disease. In most cases, symptoms begin in childhood, but rare cases with adult onset are described. Regardless of its high variability, the clinical hallmarks are diffuse muscle weakness and the development of multiple bone deformities and contractures. Skeletal muscle biopsy is of high diagnostic significance. Due to a potential association with malignant hyperthermia, early diagnosis is of great importance. A curative treatment is not currently known. Here we discuss aetiology, pathogenesis, clinical features, diagnosis, differential diagnosis, therapeutic strategies, and prognosis of central core myopathy based on a clinical example with an atypical onset of symptoms in adulthood.

PMID:
17235422
[PubMed - indexed for MEDLINE]
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