Abstract
家系1 先证者(Ⅲ7),男,38岁,30岁时出现双上肢远端轻微纤颤,不影响日常生活,维持姿势及精细运动时加重.晨起或激动时有全身不自主抖动,偶尔可将牙刷掉在地上,1～2次/日.31岁出现劳累后头眼向一侧扭,全面强直阵挛(generalized tonic clonic seizure,GTCS)发作,之后平均每年发作2～3次,均在极度劳累后出现.神经系统检查:双手可见轻微的姿势性震颤,随意运动或维持姿势时加重.病理征阴性。
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Schedule a callMore From: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
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