Paroxysmal kinesigenic dyskinesia
10.3760/cma.j.cn113694-20240324-00187
- VernacularTitle:发作性运动诱发性运动障碍
- Author:
Zhiying WU
1
;
Hongfu LI
Author Information
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
- Keywords:
Paroxysmal kinesigenic dyskinesia;
Clinical manifestations;
Diagnosis;
Treatment
- From:
Chinese Journal of Neurology
2024;57(9):1020-1024
- CountryChina
- Language:Chinese
-
Abstract:
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.
