Treatment of myoclonus-dystonia syndrome with tetrabenazine.

ABSTRACT:

Background

Many cases of myoclonus-dystonia (M-D) are due to mutations in SGCE (DYT11). For the majority of patients, myoclonus is relatively more severe than dystonia and can lead to significant functional disability. Deep brain stimulation has been chosen as a treatment option in some patients given that M-D often responds poorly to oral pharmacotherapy.

Methods

Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine.

Results

Both subjects showed marked improvement in myoclonus and mild-to-moderate improvement in dystonia with tetrabenazine. In addition, the response to tetrabenazine has been sustained fo

SUBMITTER: Luciano AY 

PROVIDER: S-EPMC4254189 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature