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

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

Authors :
Gdynia HJ
Sperfeld AD
Hanemann CO
Source :
Der Nervenarzt [Nervenarzt] 2007 Apr; Vol. 78 (4), pp. 387-92.
Publication Year :
2007

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.

Details

Language :
German
ISSN :
0028-2804
Volume :
78
Issue :
4
Database :
MEDLINE
Journal :
Der Nervenarzt
Publication Type :
Academic Journal
Accession number :
17235422
Full Text :
https://doi.org/10.1007/s00115-006-2237-1