title: Autosomal recessive distal dystrophy.
abstract: We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.
authors.affiliation: Department of Medicine, University of Texas Health Science Center, San Antonio 78284.
authors.forename: R J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: R G
authors.initials: RG
authors.lastname: Miller
authors.forename: R C
authors.initials: RC
authors.lastname: Griggs
mesh_terms: D000293:Adolescent; D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005260:Female; D006801:Humans; D007866:Leg; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology*
chemical_list: D003402:Creatine Kinase