发作性运动诱发性运动障碍  

Paroxysmal kinesigenic dyskinesia

作　　者：吴志英[1] 李宏福 Wu Zhiying;Li Hongfu(Department of Medical Genetics,Center for Rare Diseases,the Second Afiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China)

机构地区：[1]浙江大学医学院附属第二医院医学遗传科、罕见病诊治中心,杭州310009

出　　处：《中华神经科杂志》2024年第9期1020-1024,共5页Chinese Journal of Neurology

摘　　要：发作性运动诱发性运动障碍是发作性运动障碍中最常见的类型,主要表现为突然运动或姿势改变诱发的舞蹈症和肌张力障碍等运动障碍,卡马西平和奥卡西平可以有效控制发作。该病是一种常染色体显性遗传病,致病基因有 PRRT2和 TMEM151A。若临床医生对该病认识不足,易将其误诊为癫痫或癔症,延误治疗。本文对该病的病因及发病机制、流行病学、临床表现、辅助检查、诊断及鉴别诊断、治疗与预后等方面进行介绍。Paroxysmal kinesigenic dyskinesia(PKD)is the most common subtype of paroxysmal movement disorders,characterized by the chorea and dystonia triggered by sudden changes in movement or posture.The condition can be effectively controlled by medications such as carbamazepine and oxcarbazepine.PKD is an autosomal dominant inherited disorder,with causative genes identified as PRRT2 and TMEM151A.Due to insufficient understanding of this condition among clinicians,it is frequently misdiagnosed as epilepsy or hysteria,leading to delay of treatment.The systematic overview about the etiology,pathogenesis,epidemiology,clinical manifestations,auxiliary investigations,diagnostic criteria,differential diagnosis,therapeutic approaches,and prognosis of PKD is provided in this article.

关 键 词：发作性运动诱发性运动障碍 临床表现 诊断 治疗 

分 类 号：R596.1[医药卫生—内科学]