[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia].
The patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included.
Ohtake
T
T
Nagashima
T
T
Yamane
M
M
Tanabe
H
H
D000328:Adult; D001933:Brain Stem / Q000473:pathology; D004421:Dystonia / Q000150:complications* / Q000503:physiopathology; D004576:Electromyography; D005133:Eye Movements; D005260:Female; D006801:Humans; D013132:Spinocerebellar Degenerations / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome