Juvenile proximal spinal muscular atrophy with early hypertrophy of calves.
The clinical, electrophysiological, histological and ultrastructural features of a patient with chronic spinal muscular atrophy of adolescent onset associated with hypertrophied calf-muscle are described. This recently recognised entity must be distinguished from other types of spinal muscular atrophy.
D000293:Adolescent; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007866:Leg / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000150:complications* / Q000235:genetics; D013122:Spinal Diseases / Q000150:complications* / Q000235:genetics