Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.creatorBorges, V
dc.creatorFerraz, H. B.
dc.creatorAndrade, LAF de
dc.date.accessioned2016-01-24T12:31:13Z
dc.date.accessioned2022-10-07T20:29:54Z
dc.date.available2016-01-24T12:31:13Z
dc.date.available2022-10-07T20:29:54Z
dc.date.created2016-01-24T12:31:13Z
dc.date.issued2000-12-01
dc.identifierNeurological Sciences. New York: Springer-verlag, v. 21, n. 6, p. 373-377, 2000.
dc.identifier1590-1874
dc.identifierhttp://repositorio.unifesp.br/handle/11600/26424
dc.identifier10.1007/s100720070053
dc.identifierWOS:000169204200007
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4018779
dc.description.abstractWe 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.
dc.languageeng
dc.publisherSpringer
dc.relationNeurological Sciences
dc.rightshttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0
dc.rightsAcesso restrito
dc.subjectmyoclonus-dystonia
dc.subjectessential myoclonus
dc.subjectdystonia
dc.subjectalcohol
dc.subjectgenetics
dc.titleAlcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients
dc.typeArtigo


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