Late-onset X-linked recessive spinal and bulbar muscular atrophy.
A family is described in which five males have late-onset facial weakness, dysarthria, dysphagia, and slowly progressive proximal weakness. Electrodiagnostic studies and muscle biopsy were compatible with spinal muscular atrophy. This family appears quite similar to several previously reported families with late-onset X-linked recessive spinal and bulbar muscular atrophy. Because of the relative homogeneity of this particular phenotype of spinal muscular atrophy, a single metabolic derangement was sought. Three obligate carriers were studied, and no abnormality was detected. A further family with this condition is briefly discussed.
D000368:Aged; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008526:Medulla Oblongata; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013118:Spinal Cord Diseases / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome