发作性肌张力障碍38例临床分析

The clinical study of paroxysmal kinesigenic choreoathetosis.

目的提高对发作性肌张力障碍临床特征的认识,以引起临床重视,减少误诊。方法对发作性肌张力障碍的类型、临床特征、电生理表现、治疗转归以及发病机制等进行总结、分析。结果发作性肌张力障碍临床可分三型,不同类型有不同的诱因;患者多为青少年男性,发作表现为舞蹈样手足徐动、躯体扭转及扮鬼脸等肌张力障碍,形式多样,发作时无意识丧失;发作期及发作间期脑电图均无特异性异常,其余多项辅助检查也无异常。结论发作性肌张力障碍是一种不同于癫癎的独立的疾病。

Objective To study the clinical characteristics, electrophysiological manifestations and pathogenesis of paroxysmal kinesigenic dyskinesias (PKD) and paroxysmal non-kinesigenic dyskinesias( NPKD). Methods The clinical characteristics of 33 patients with PKD and five patients of NPKD during 1997 to 2004 were analyzed and related literatures were reviewed. Results All the patients were youth without familial history, the clinical manifestations were sudden onset of abnormal involuntary movements in unilateral/bilateral limb or face that lasted only several seconds and relieved spontaneously which were precipitated by starting of movement. There was no impairment of consciousness and discomfort during and after paroxysm. No abnormal signs in physical examination of nervous system. ,EEG and head CT/MRI were found, thus these 38 patients were diagnosed as idiopathic PKD and NPKD. After oral administration of carbamazepine or dilantin , the paroxysmal symptoms with PKD were under effective control. Conclusions The PKD and NPKD are an autosomal dominant inheritance disease, sporadic or idiopathic occurrence. It may be occurred secondary to other diseases. The pathogenesis has not been elucidated. The clinical characteristics of PKD and NPKD are abnormal involuntary movements in unilateral/bilateral limb or face while it is precipitated by movement. The PKD and NPKD are diseases with good prognosis and PKD is sensitive to antiepileptic drugs.