Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances.

MOVEMENT DISORDERS(2004)

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摘要
Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here. improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time. (C) 2004 Movement Disorder Society.
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关键词
Mohr-Tranebjaerg syndrome,deafness-dystonia syndrome,GABAergic substances
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