发作性运动性舞蹈徐动症诊断与鉴别

目的　分析易误诊的发作性运动性舞蹈徐动症的临床特点。方法　分析发作性运动性舞蹈徐动症 2 1例 ,部分患者随诊。结果　在发作前均有明显的诱发因素 ,大多为突然运动、紧张、过度换气或惊吓。临床表现为发作性肢体的偏转、扭曲或者姿势的静止 ,多为一侧性 ,持续时间 1s～ 5 min,发作频率为每天 10余次或数月 1次不等 ,发作时意识清楚 ,发作间歇期完全正常。 6例有家族史 ,发病年龄 7～ 13岁。其电生理和神经影像学检查无明确异常。卡马西平类药物治疗有满意的疗效。结论　发作性运动性舞蹈徐动症是一种由运动诱发的、短暂的、发作性局部或全身不随意运动 ,属于离子通路疾病 ,用抗癫痫药疗效好

Diagnosis And Differential Diagnosis of Paroxysmal Kinesigenic Choreoathetosis

Objective To investigate the clinical characteristics of the patients with paroxysmal kinesigenic choreoathetosis(PKC) which was easily misdiagnosed as other seizure disorders.Methods 21 patients with PKC were analyzed and partial patients were followed up.Results Evident inducing factors were found before PKC such as sudden movement, startle, stress and hyperventilation and its clinical characteristics were dystonic postures,chorea,athetosis or ballism which lasted usually 3 to 10 seconds each time but never more than five minutes and recured ranging from several dozen times per day to once several months.Moreover, all patients lost their conciousness during the attack and restored to normality during the interval.6 of the 21 patients had family histories with their onset of PKC ranging from 7 to 13 years old.Generally,all the patients' electrophysiology and neuroimaging examination showed no abnormality and carbamazepine was effective to patients with PKC.Conclusions Paroxysmal kinesigenic choreoathetsis was characterized by movement induced,transient,local or generalized involuntary movement,and belonged to channelopathy.Antiepileptic drugs ,particularly carbamazeqine,were effective to PKC.