A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.
D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D013122:Spinal Diseases / Q000235:genetics*