A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy.
Three patients from a large pedigree are described who had autosomal dominant spinal muscular atrophy that became manifest between the end of the fourth and the sixth decade. The disease progressed rapidly without evidence of corticospinal tract dysfunction, and within 3 years the patients died from respiratory failure.
D000328:Adult; D001132:Arm; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012782:Shoulder