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 first time.
Kreisel
Stefan H
SH
Department of Neurology, Universitätsklinikum Mannheim, University of Heidelberg, Mannheim, Germany. shkreisel@neuro.ma.uni-heidelberg.de
Binder
Johannes
J
Wöhrle
Johannes C
JC
Krauss
Joachim K
JK
Hofmann
Sabine
S
Bauer
Matthias F
MF
Hennerici
Michael G
MG
Bäzner
Hansjörg
H
D000328:Adult; D002998:Clonazepam / Q000627:therapeutic use*; D003072:Cognition Disorders / Q000150:complications; D020821:Dystonic Disorders / Q000188:drug therapy* / Q000235:genetics*; D018757:GABA Modulators / Q000627:therapeutic use*; D040181:Genetic Diseases, X-Linked / Q000188:drug therapy / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D001523:Mental Disorders / Q000150:complications; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D020125:Mutation, Missense / Q000235:genetics; D009207:Myoclonus / Q000150:complications; D017354:Point Mutation / Q000235:genetics; D013577:Syndrome
D018757:GABA Modulators; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human; D002998:Clonazepam