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Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy

Department of Neurology, School of Medicine, University of California, San Francisco, CA.

We describe four men from two kinships affected with X-linked recessive bulbospinal neuronopathy, and one sporadic case. All developed postural tremor, weakness, and fasciculations, with onset from age 25 to 39 years. Weakness began in the pelvic girdle or hands, with dysphagia or dysarthria occurring years later in two. Sensory symptoms were present in only one, who also had diabetes mellitus. In contrast, sural nerve action potentials were small or absent in all. Needle EMG showed widespread chronic partial denervation with reinnervation. The characteristic twitching of the chin produced by pursing of the lips consisted of repetitive or grouped motor unit discharges, rather than fasciculations. Broader awareness of the distinctive features of bulbospinal neuronopathy will probably increase the frequency of its recognition. Diagnosis is important for purposes of providing a prognosis for affected men and genetic counseling for affected families.

Address correspondence and reprint requests to Dr. Richard K. Olney, Department of Neurology, Box 0114, University of California, San Francisco, San Francisco, CA 94143-0114

Received September 19, 1990. Accepted for publication in final form November 19, 1990.

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