Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China
Li Cao, Xiaojun Huang, Ning Wang, Zhi‐Ying Wu, Cheng Zhang, Weihong Gu, Shuyan Cong, Jianhua Ma, Ling Wei, Yanchun Deng, Qi Fang, Qi Niu, Jin Wang, Zhaoxia Wang, You Yin, Jinyong Tian, Shufen Tian, Hongyan Bi, Hong Jiang, Xiao‐Rong Liu, Lu Yang, Meizhen Sun, Jianjun Wu, Erhe Xu, Tao Chen, Tao Chen, Chen Xu, Wei Li, Shujian Li, Qinghua Li, Xiaonan Song, Ying Tang, Ping Yang, Yun Seok Yang, Min Zhang, Xiong Zhang, Yuhu Zhang, Ruxu Zhang, Yi Ouyang, Jin‐Tai Yu, Quanzhong Hu, Qing Ke, Yuanrong Yao, Zhe Zhao, Xiuhe Zhao, Guohua Zhao, Furu Liang, Nan Cheng, Jianhong Han, Rong Peng, Shengdi Chen, Beisha Tang
Abstract
Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.