X-linked recessive bulbospinal neuronopathy (Kennedy's syndrome): a neurophysiological study.
We examined 8 men with X-linked recessive bulbospinal neuronopathy. Quantitative electromyography showed large amplitude motor unit action potentials of prolonged duration and increased polyphasia. There was a pronounced loss of motor units in all but one muscle at maximal volition even in muscles with normal or only mildly decreased force. Denervation activity was present in 53% sampled limb muscles, and fasciculation was recorded in 33% of limb muscles. Nerve conduction studies showed small amplitude sensory action potentials in 6 out of 8 patients. The motor and sensory conduction velocity was normal or borderline slow. The electrophysiologic findings were consistent with chronic partial denervation (motor axonopathy) combined with large fibre sensory axonopathy.
Laboratory of Clinical Neurophysiology, Rigshospitalet (the National Hospital) Copenhagen, Denmark.
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Trojaborg
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Wulff
D000328:Adult; D000368:Aged; D001369:Axons; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004576:Electromyography; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000502:physiology; D008875:Middle Aged; D009123:Muscle Hypotonia / Q000503:physiopathology; D009132:Muscles / Q000503:physiopathology; D009410:Nerve Degeneration; D009412:Nerve Fibers; D009431:Neural Conduction; D010543:Peroneal Nerve / Q000502:physiology; D013497:Sural Nerve; D013577:Syndrome; D014459:Ulnar Nerve / Q000502:physiology; D014960:X Chromosome