[Chronic X-linked recessive bulbospinal amyotrophy (Kennedy-Stefanis type). Apropos of a case].
A new observation of chronic X-linked recessive spinal amyotrophy is reported. This series of cases fits the description of Kennedy-Stefanis chronic spinal amyotrophy, whose main characteristics are: sex-linked recessive inheritance, weakness and bulbo-spinal amyotrophy with proximal predominance, facio-lingual fasciculations, areflexia, gynecomastia in half of cases, very slowly progressive course, neurogenic EMG with normal nerve conduction velocities, and neurogenic muscle biopsy.
D001706:Biopsy; D001927:Brain Diseases / Q000235:genetics; D002908:Chronic Disease; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008526:Medulla Oblongata; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013118:Spinal Cord Diseases / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome
L'amyotrophie bulbo-spinale chronique de transmission récessive liée à l'X (type Kennedy-Stefanis). A propos d'une observation.