[Central core myopathy: a juvenile and adult disease]. / Central-core-Myopathie: Eine Erkrankung mit Relevanz im Kindes- und Erwachsenenalter.
Nervenarzt
; 78(4): 387-92, 2007 Apr.
Article
em De
| MEDLINE
| ID: mdl-17235422
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Osso e Ossos
/
Debilidade Muscular
/
Miopatia da Parte Central
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
De
Revista:
Nervenarzt
Ano de publicação:
2007
Tipo de documento:
Article