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.
Trojaborg
W
W
Laboratory of Clinical Neurophysiology, Rigshospitalet (the National Hospital) Copenhagen, Denmark.
Wulff
C H
CH
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