Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of cerebellar ataxia showing severe dystonia masquerading as myoclonic jerky movements on arm extension

Hideaki Nakagaki, M. D. 1), Hirokazu Furuya, M. D. 1), Yasushi Miyoshi, M. D. 1), Hiroyuki Murai, M. D. 1), Takehisa Araki, M. D. 1), Yasumasa Ohyagi, M. D. 1), Takeshi Yamada, M. D. 1), Masayuki Sasaki, M. D. 3), Shozo Tobimatsu, M. D. 2) and Jun-ichi Kira, M. D1)

1)Departments of Neurology and 2)Clinical Neurophysiology, Neurological Institute and 3)Department of Radiology, Graduate School of Medical Sciences, Kyushu University

A 43-year-old man was admitted to our hospital due to unstable walking, head tilting to the left and difficulty in extending his arm. He was quite healthy until the age of 20 years, when these symptoms appeared and progressed slowly afterward. Due to his unstable walking, he started to use a wheelchair when he was 39 years old. He had no family history of similar disease. On admission, neurological examination revealed spasmodic torticollis, ataxic speech and marked limb and truncal ataxia. Myoclonic jerky flexion of the forearm was induced when he raised and extended his forearm. He also showed mild hyperreflexia in the lower limbs without pathological reflexes. He had weakness and atrophy of the left supraspinatus, infraspinatus, deltoid and biceps brachii muscles and mild superficial sensory impairment in the left axillary nerve territory due to cervical spondylotic radiculopathy of the left C5 root. MRI of the brain demonstrated severe bilateral atrophy of the cerebellar hemispheres and vermis but minimal atrophy of the cerebrum and brainstem. Because surface electromyography revealed continuous discharge with phasic components in the biceps and wrist flexor muscles on extending the upper limbs, the jerky flexion movement of the forearm was considered to be primarily dystonia. Although no giant SEP was observed, a C-response was detected in the long-loop reflex in response to right median nerve stimulation. Nuclear examinations showed diffuse hypoperfusion and decreased glucose metabolism in the cerebellum. Based on these findings, we hypothesized that cerebellar dysfunction may have induced severe dystonic movement resembling myoclonus. We would like to name this complicated involuntary movement an "arm thrust". This is the first case to be reported of sporadic, chronic, progressive cerebellar ataxia accompanied by severe dystonic movement, especially on stretching the forearms, that mimics myoclonic movement.

(CLINICA NEUROL, 42: 7－12, 2002)
key words: dystonia, myoclonus, spinocerebellar degeneration, long-loop reflex, arm thrust

(Received: 5-Apr-01)