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Updated: Aug 22, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances
Stefan H Kreisel1, Johannes Binder, Johannes C Wöhrle
1Department of Neurology, Universitätsklinikum Mannheim, University of Heidelberg, Mannheim, Germany. shkreisel@neuro.ma.uni-heidelberg.de
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.
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