发作性运动障碍的研究进展

Research Progress of Paroxysmal Dyskinesias

发作性运动障碍(PDs)是一组相对少见、遗传异质性短暂、发作性异常运动综合征,目前公认的有三种形式,包括发作性运动诱发运动障碍、发作性非运动诱发运动障碍和发作性持续运动诱发运动障碍。随着对其病理生理学和遗传学的深入认识,将会对基于家族性病例的基因型-表型关联性作出更好的临床分类。现从其分类、临床表现、遗传学、病理生理学及治疗方面对三种原发性PDs的最新进展予以综述。

Paroxysmal dyskinesias （PDs） are a relatively rare and heterogenous group of conditions mani- festing as episodic dyskinesia lasting a brief duration. Three forms are widely recognized, namely, paroxysmal kinesigenic,nonkinisegenic and exercise induced. There have been major advances in the understanding of the pathophysiological mechanisms and the genetics of these disorders, leading to better clinical definitions based on genotype-phenotype correlations in the familial forms. Here is to make a review on the latest ad- vances in three main forms of primary PDs from the perspectives of classification, clinical manifestation, ge- netics, pathophysiology and treatment.