Hereditary distal spinal muscular atrophy with vocal cord paralysis.
A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis is a characteristic and potentially hazardous feature. No previous report of this condition has been found.
D000328:Adult; D000367:Age Factors; D000870:Anterior Horn Cells; D005121:Extremities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D013118:Spinal Cord Diseases / Q000235:genetics*; D013577:Syndrome; D014826:Vocal Cord Paralysis / Q000235:genetics*