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目的探讨发作性运动诱发肌张力障碍(PKD)的临床特征。方法前瞻性地收集2014年9月-2015年3月视频脑电监测中心连续住院检查并诊断为PKD的23例患者,分析其临床表现、视频脑电图及其余相关辅助检查特点并随访6~12个月,观察其治疗反应等。结果 23例患者男16例,女7例,平均年龄14.8岁,平均病程5.2年,5例具有家族史;均完成了24~48 h不等的长时程视频脑电图监测,共记录到164次发作,发作表现为体位变化或受刺激时突发一侧或双侧肢体的肌张力障碍,持续数秒至1 min不等,发作时意识清楚。视频脑电图监测发现发作期无同步癫痫样放电,2例患者PRRT2基因检测阳性,长期随访对多种抗癫痫药物治疗均有效。结论 PKD是以运动诱发的发作性、短暂性肌张力障碍为特征的少见良性疾病,部分患者可查到致病基因,抗癫痫药物治疗预后较好,需临床诊治过程中给予重视。
Objective To investigate the clinical features of episodic exercise-induced dystonia (PKD). Methods A total of 23 consecutive patients admitted to the Video EEG Monitoring Center from September 2014 to March 2015 were retrospectively analyzed. The clinical manifestations, video-EEG and other related auxiliary features were analyzed and followed up for 6 ~ 12 months to observe the treatment response. Results There were 16 males and 7 females in 23 cases, with an average age of 14.8 years and an average duration of 5.2 years. Five patients had a family history. All of them completed long-term video EEG monitoring ranging from 24 to 48 hours and recorded a total of 164 episodes, seizures manifested as changes in position or stimulated sudden side or bilateral limb dystonia, lasting a few seconds to 1 min range, the onset of awareness. Video EEG monitoring found no epileptiform discharges during the onset of attack. Two patients had positive PRRT2 gene test, and long-term follow-up was effective for a variety of antiepileptic drugs. Conclusions PKD is a rare benign disease characterized by episodic and transient dystonia induced by exercise. Some patients can find pathogenic genes. The treatment with anti-epileptic drugs is of good prognosis and needs to be paid more attention in clinical diagnosis and treatment.