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Natural Course of Myoclonus‐Dystonia in Adulthood: Stable Motor Signs But Increased Psychiatry
Author(s) -
Timmers Elze R.,
Peall Kathryn J.,
Dijk Joke M.,
Zutt Rodi,
Tijssen Cees C.,
Bergmans Bruno,
Foncke Elisabeth M.,
Tijssen Marina A.J.
Publication year - 2020
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.28033
Subject(s) - dystonia , myoclonus , psychology , movement disorders , rating scale , natural history study , psychiatry , comorbidity , natural history , medicine , disease , developmental psychology
Myoclonus‐dystonia (M‐D) is a rare hyperkinetic movement disorder characterized by upper body–predominant myoclonus and dystonia.1 A large proportion of cases are caused by autosomal‐dominant inherited mutations in the SGCE gene. In addition to the motor manifestations, psychiatric disorders are frequently reported.2 Several studies have suggested that they may form a primary component of the M‐D phenotype.3, 4 This study represents the first long‐term follow‐up study of both motor and psychiatric symptomatology in adults with M‐D (SGCE mutation), providing further insights into the natural history of M‐D and enabling more prognostic information.