Neues bei paroxysmalen Bewegungsstörungen

Zusammenfassung

Paroxysmale Bewegungsstörungen sind seltene Erkrankungen, die jedoch teilweise exzellent behandelbar sind und daher differenzialdiagnostisch bei der Evaluation von Patienten mit paroxysmalen Störungen eine wichtige Rolle spielen. Die autosomal-dominant vererbten paroxysmalen Dyskinesien und hierunter die paroxysmale kinesiogene Dyskinesie sind die häufigste Form der paroxysmalen Bewegungsstörung. Der folgende Artikel gibt eine Übersicht über die klinische Präsentation der klassischen paroxysmalen Dyskinesien und ist fokussiert auf neue Erkenntnisse, insbesondere zu den genetischen Ursachen paroxysmaler Störungen und der zugrundeliegenden Pathophysiologie. Es werden zudem unterschiedliche klinische Phänotypen durch spezifische Genmutationen beschrieben, die verdeutlichen, dass enge Verbindungen zwischen paroxysmalen Dyskinesien und anderen paroxysmalen Störungen vorliegen.

Abstract

Paroxysmal movement disorders are rare neurological disorders. Since some of these disorders have an excellent response to medical treatment it is important to consider them in the differential diagnosis of paroxysmal disorders. Autosomal dominantly inherited paroxysmal dyskinesias, in particular paroxysmal kinesigenic dyskinesia, represent the most common type of paroxysmal movement disorder. This article gives an overview of the clinical characteristics of paroxysmal dyskinesias and summarises new insights into the genetics and pathophysiology of these disorders. We describe the phenotypic variability of specific gene mutations to highlight the close link between paroxysmal dyskinesias and others paroxysmal disorders.

Schlüsselwörter

paroxysmale kinesiogene Dyskinesie - paroxysmale nicht kinesiogene Dyskinesie - paroxysmale belastungsinduzierte Dyskinesie

Keywords

paroxysmal kinesigenic dyskinesia - paroxysmal non-kinesigenic dyskinesia - paroxysmal exercise-induced dyskinesia

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