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目的探讨阵发性运动源性运动不良症(PKD)的临床特征,以提高对本病的认识。方法对1例PKD患者进行临床分析,并结合文献复习。结果患者主要临床表现为由突然起始动作诱发的发作性运动障碍,持续时间短暂,不伴意识清楚,发作间期完全正常;对卡马西平治疗反应好。结论 PKD是种罕见的运动障碍,表现为由突然的随意动作所诱发的不自主运动;突变基因是富脯氨酸跨膜蛋白2(PRRT2)基因;抗癫药物特别是卡马西平治疗有效。
Objective To explore the clinical features of paroxysmal motor-derived dyskinesia (PKD) in order to improve the understanding of this disease. Methods One patient with PKD was analyzed clinically and reviewed in literature. Results The main clinical manifestations were episodic dyskinesia induced by abrupt onset of action. The duration of the episode was short, without any awareness and the interictal period was completely normal. The response to carbamazepine was good. Conclusions PKD is a rare disorder characterized by involuntary movements induced by abrupt random motions. The mutant gene is the PRRT2 gene. Antiepileptic drugs, especially carbamazepine, are effective.