Article
Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.
Parkinsonism & related disorders - 1 Dec 2019
Timmers Elze R, Smit Marenka, Kuiper Anouk, Bartels Anna L, van der Veen Sterre, van der Stouwe A M Madelein, Santens Patrick, Bergmans Bruno, Tijssen Marina A J
Abstract excerpt
BACKGROUND: Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest, but never tested directly, that the type of psychiatric disorder differs between dystonia syndromes, probably related to disease specific pathology. Little is known about...
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