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发作性运动障碍疾病(paroxysmal movement disorder,PMD)为一类临床少见的神经系统发作性疾病,多于儿童期和青少年期发病,以男性居多,病因不明,有家族史或散发。现对2005年6月-2006年8月山东省潍坊市脑科医院诊断、治疗的发作性运动障碍疾病两家系和1例散发病例进行临床与遗传学分析,总结报告如下。家系1 先证者(Ⅲ_1),女性,22岁。主诉行走或运动初始身体不适感12年,于2005年6月11日至我院就诊。患者于10岁出现行走时右侧小腿抽动感,站立不稳,偶可下蹲,严重时头向左侧扭曲、左侧肢体屈曲、右侧上肢伸直,半蹲位,意识清楚,持续10 s～1 min,1次/d。既往健康。1999年7月开始服用中成药(具体不详),自觉治疗1周后有效,以后效果欠佳,遂改为丙戊酸钠0.20g口服,3次/d,治疗1个月无效。随后曾服用吡拉西坦(脑复康)、苯海索(安坦),无效。体格检查未见阳性体征。头部MRI和MRA检查未见异常。动态脑电图检查显示轻度阵发性异常电活动,以双侧额区显著。长
Paroxysmal movement disorder (PMD) is a rare clinical disease of the nervous system, more than childhood and adolescent onset, mostly male, unknown etiology, family history or sporadic. Now in June 2005 -2006 August 2006 Weifang City, Shandong Province brain hospital diagnosis and treatment of episodes of movement disorders two families and one case of sporadic clinical and genetic analysis, the summary report is as follows. Family 1 proband (Ⅲ_1), female, 22 years old. Chief complaint walking or exercise initial physical discomfort for 12 years, in June 11, 2005 to our hospital. Patients walking at the age of 10 appeared when the right lower leg twitch, standing instability, even squatting, head to the left when severe distortions, left limb flexion, right upper extremity straight, half-squatting, conscious, for 10 s ~ 1 min, 1 time / d. Past health. July 1999 started taking proprietary Chinese medicine (specifically unknown), consciously effective after 1 week after the poor results, then changed to sodium valproate 0.20g orally, 3 times / d, 1 month treatment is invalid. Piracetam (Naofukong) and trihexyphenidyl (Antanan) were subsequently ineffective. Physical examination no positive signs. Head MRI and MRA showed no abnormalities. Dynamic EEG examination showed mild paroxysmal anomalous electrical activity, with significant bilateral frontal area. long