Dystonia in the Mohr–Tranebjaerg syndrome responds to GABAergic substances

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Abstract

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. © 2004 Movement Disorder Society

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