Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients.
We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and 2 women with myoclonus affecting predominantly the arms. Active movements of these segments elicited the dystonic and myoclonic movements. A marked improvement with alcohol intake was seen. Laboratory findings including EEG, SSEP, and cranial CT and MRI were normal. Surface EMG recording showed bursts with duration of 30-112 ms in 3 patients. One patient showed a triphasic recording pattern (agonist-antagonist-agonist) of ballistic type. Our findings suggest that the myoclonus-dystonia disorder is present in Brazilian patients.
Borges
V
V
Movement Disorders Unit, Department of Neurology, Federal University of São Paulo, São Paulo, Brazil.
Ferraz
H B
HB
de Andrade
L A
LA
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D001938:Brazil; D004421:Dystonia / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004569:Electroencephalography; D004576:Electromyography; D000431:Ethanol / Q000627:therapeutic use*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D014057:Tomography, X-Ray Computed
D000431:Ethanol