阵发性运动源性运动障碍18例报道

Clinical analysis of 18 patients with paroxysmal kinesigenic dyskinesia.

目的 研究罕见的发作性疾病——阵发性运动源性运动障碍。方法 回顾性分析典型的阵发性运动源性运动障碍18例,阐述该病的特异性,并综合文献,简述其发病机制及遗传规律。结果 男性11例,女性7例,发病年龄7岁～27岁(平均13岁)。12例有家族史(66.6％),考虑为常染色体显性遗传。讨论了本症的临床表现。结论 发作性舞蹈徐动症是一种由这动诱发的、短暂的发作性局部或全身不随意运动,为常染色体显性遗传,用抗癫痫药疗效好。

Objective: To investigate the clinical characteristics of patient with paroxysmal kinesigenic dyskinesia(PKD). Method16 patients, with PKD were analyzed for 6 month to 3 years of follow - up period. Results: There were 11 men and 7 women. The ageonset of the condition ranged from 7 to 27 years with a mean of 13 years. Twelve patients(66.6%)had a family history of conditionand the mode of inheritance was suggestive of an autosomal dominent pattern. Conclusion: Paroxysmal kinesigenic dyskinesia is char-acterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements and transmitted as an auto-somal dominant trait. Antiepilepsy drugs were effective in the treatment of this disease.