Objective To investigate the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and the mutation features of its pathogenic gene proline-rich transmenbrane protein 2 (PRRT2). Method The clinical manifestations and genetic tests of one case of PKD were retrospectively analyzed, and the related literatures were reviewed. Results A 10 year and 9 month male patient was recruited. The age of dyskinesias onset was 7 year and 6 month. The descriptions of the attacks were abnormal involuntary movements which were induced by sudden voluntary movements and presented with dystonia. The frequency of the attacks was three to ifve times per day with the duration lasting ten to twenty seconds, and there is no loss of consciousness. Treatment with oxcarbazepine is effective. A heterozygous mutation in PRRT2 gene, c.649_650insC (p. 217fs224X), was found by genetic testing, and the mutation was inherited from the patient’s mother who showed no symptom of PKD. Conclusion The onset age of PKD could be in the childhood and adolescence. The attack is provoked by sudden movements and the duration time is short. Treatment with antiepileptic drug is effective. The test of PRRT2 gene may help diagnosis. Mutation c.649_650insC is the hotspot mutation of the gene.%目的：探讨阵发性运动诱发性运动障碍（PKD）的临床特点及其致病基因PRRT2的突变特点。方法回顾性分析1例PKD患儿的临床表现以及基因检测结果，同时复习相关文献。结果患儿男性，10岁9个月，起病年龄7岁6个月。运动诱发的运动障碍表现为肌张力不全，发作频率为每天3~5次，持续10~20 s，发作时意识清楚；服用奥卡西平治疗有效。基因检测发现致病基因PRRT2存在c.649_650insC（p.217fs224X）杂合突变，突变遗传自无PKD症状的母亲。结论 PKD常于儿童、青少年时期发病，为运动诱发，发作持续时间较短，抗癫痫药物治疗有效。PRRT2基因检测有助于临床诊断。
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