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A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus. 2017

Manabu Inoue, and Yasuhiro Kojima, and Masutaro Kanda, and Koji Tsuzaki, and Yoko Shibata, and Toshiaki Hamano, and Hiroshi Shibasaki
Department of Neurology, Kansai Electric Power Hospital, Osaka City, Osaka, Japan.

OBJECTIVE This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography. METHODS A 66-year-old man had progressive gait disturbance, dysphagia, and easy fatigability of all extremities over a period of 4 years. Neurologically, muscle atrophy, fasciculation, and weakness were observed in the bulbar and limb muscles. When the knees were kept in mild flexion in the supine position, fasciculation of the thigh adductor muscles was so large that it caused shock-like involuntary movements of the legs, corresponding to spinal myoclonus. A genetic test revealed 41 repeats of CAG in the androgen receptor gene, and the diagnosis of BSMA was made. CONCLUSIONS The present case suggests that extremely large fasciculation can cause spinal myoclonus.

UI MeSH Term Description Entries

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