Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification.
A family with autosomal dominant congenital muscular dystrophy affecting members of both sexes in three generations is described; a father and his two sons were studied. The onset of symptoms was in early childhood and progression, if any, was slow. The proximal limb muscles, the sternocleidomastoid and anterior tibial muscles were affected. One patient had torticollis and all had heel-cord shortening. An electrophysiological examination showed myopathy. There was no cardiomyopathy. Creatine kinase (CK) was elevated, and a histological study revealed a necrotizing myopathy with pronounced regeneration and formation of aberrant myofibrils (ringbinden) and fibrosis.
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D004576:Electromyography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology