title: Congenital non-progressive myopathy, associated with scoliosis--clinical, histological, histochemical and electron microscopic studies of seven cases.
abstract: Five cases of central core disease, one case of multicore disease and one case of non-specific myopathy, all of which were associated with scoliosis, were studied in regard to clinical features, histology, histochemistry and electron microscopy. The characteristic clinical features were non-progression, delayed motor development and proximal muscle weakness. Muscle biopsy was the most important diagnostic procedure. Routine histology might not reveal core regions where oxydative enzymatic activity was decreased or was absent in the muscle fibers, but histochemistry disclosed clearly single or multiple core regions. Electron microscopy showed a structured or unstructured core in central core disease. Scoliosis was commonly associated and was very similar to idiopathic scoliosis. Some curves did not progress while others progressed and did not cease progression with maturation. Surgical correction and stabilization was carried out on two cases without complication. The importance of recognition of these myopathies was emphasized.
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis; D004576:Electromyography; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital / Q000378:metabolism / Q000473:pathology*; D012600:Scoliosis / Q000150:complications*
chemical_list: D003402:Creatine Kinase