Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances

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 firs...

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Veröffentlicht in:	Movement disorders 2004-10, Vol.19 (10), p.1241-1243
Hauptverfasser:	Kreisel, Stefan H., Binder, Johannes, Wöhrle, Johannes C., Krauss, Joachim K., Hofmann, Sabine, Bauer, Matthias F., Hennerici, Michael G., Bäzner, Hansjörg
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Clonazepam - therapeutic use Cognition Disorders - complications deafness-dystonia syndrome Diseases of striated muscles. Neuromuscular diseases Dystonic Disorders - drug therapy Dystonic Disorders - genetics GABA Modulators - therapeutic use GABAergic substances Genetic Diseases, X-Linked - drug therapy Genetic Diseases, X-Linked - genetics Hearing Loss, Sensorineural - complications Humans Male Malformations of the nervous system Medical sciences Membrane Transport Proteins - genetics Mental Disorders - complications Mohr-Tranebjaerg syndrome Mutation, Missense - genetics Myoclonus - complications Neurology Point Mutation - genetics Syndrome
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Zusammenfassung:	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
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.20150