X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases.
Two cases of X-linked bulbo-spinal muscular atrophy and one sporadic case with the same clinical features are presented. All three cases were extensively studied by electrophysiological methods. One of the patients showed some transient weakness, which was partly improved by pyridostigmin. In this patient the Decrement test and jitter revealed a mild degree of motor-end plate dysfunction. Clinical and electrophysiological findings obtained from all three patients suggest that in Kennedy syndrome cell bodies of group IA muscle afferents are also affected selectively, with other peripheral afferents.
Ertekin
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C
Department of Neurology, Medical School Hospital, Aegean University, Bornova, Izmir, Turkey.
Sirin
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H
D004576:Electromyography; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D014960:X Chromosome