发作性运动诱发性运动障碍八个家系临床特点分析

目的分析及探讨家族性发作性运动诱发性运动障碍（PKD）的临床特征、诊断和治疗特点。方法观察8个PKD家系的临床表现，进行家系调查分析，对患者进行脑电图或视频脑电图、头颅磁共振成像（MRI）或CT检查。结果8个家系共有患者28例，男性20例，女性8例，发病年龄8～18岁，平均10．8岁。全部患者均表现为突然运动诱发的一侧或双侧异常运动，发作时间短于1min，发作时意识清楚；发作间期均无神经系统阳性体征。同一家系中患者症状轻重不一，随年龄增大发作逐渐减少，以至消失。脑电图、视频脑电图及头颅影像学均未发现明显异常。患者使用抗癫痫药物治疗有效。结论PKD是发作性异常运动中常见的一种，突然运动诱发是其主要特点，家族性患者不少见，主要遗传方式是常染色体显性遗传，有外显不全现象，不排除有其他的遗传方式。临床发作形式与癫痫不同，但抗癫痫药物治疗有效。

Clinical analysis of eight families of paroxysmal kinesigenic dyskinesias

Objective To investigate and discuss the clinical characteristics, as well as diagnostic and therapeutic aspects of familial PKD.Methods The clinical findings of the patients with PKD were collected and the pedigrees were investigated. Electroencephalography (EEG) or video-monitoring EEG and brain magnetic resonance imaging (MRI) or computerized tomographies (CT) were performed on the probands. Results We reported 28 cases of PKD (20 males, 8 females) in 8 families. The age of onset ranged from 8 to 18 years (10.8 years). All the PKD patients had the unilateral or bilateral recurrent episodic dyskinetic attacks triggered by sudden voluntary movement, especially after a period of rest. The duration of attacks ranged from several seconds to one minutes. The patients had no conscious disorders during the attack. No neurological signs were detected during the intermittent period. The severity of onset varied in different patients in the same family. The attacks apparently occurred less frequently along with aging or scarcely happened after 30-40 years old. No abnormal EEG, video-monitoring EEG and brain images were found. Conclusions PKD is a common paroxysmal dyskinesia. Characterized by that it is triggered by sudden voluntary movement. Familial PKD must be considered when PKD is diagnosed. Autosomal dominant inheritance is often seen in familial PKD, but there may be incomplete penetrance or other inheritance mode. The attack of our cases are clinically different from that of epilepsy, but antiepileptic drugs are helpful for PKD.