摘要：

研究背景 发作性运动诱发性运动障碍是一组由突然动作诱发的非随意性运动障碍性疾病，表现为反复发作的短暂性肌张力障碍或舞蹈样动作，具有高度临床和遗传异质性。本研究旨在总结中国发作性运动诱发性运动障碍临床表型特点。 方法 采集195 例原发性发作性运动诱发性运动障碍患者临床资料，采用自行设计的发作性运动诱发性运动障碍登记表记录并整理，分析和总结发作性运动诱发性运动障碍临床表型特点，并比较家族性与散发性患者临床表型差异。 结果 195 例发作性运动诱发性运动障碍患者男女比例为4.42 ∶ 1，平均发病年龄为（12.32 ± 3.49）岁，单纯型162 例（83.08%）、复杂型33 例（16.92%），16 例（8.21%）合并特发性震颤，144 例（73.85%）发作前有先兆，发作形式包括肌张力障碍（134 例，68.72%）、舞蹈样动作（8 例，4.10%）和二者混合形式（53 例, 27.18%），134 例（68.72%）发作时面部受累，115 例（58.97%）发作频率< 10 次/d、54 例（27.69%）10 ~ 20 次/d、26 例（13.33%）> 20 ~30 次/d，117 例（60%）发作持续时间< 10 s、58 例（29.74%）> 10 ~ 30 s、20 例（10.26%）> 30 ~ 60 s，散发性131 例（67.18%）、家族性64 例（32.82%），78 例（40%）未服用药物，117 例（60%）服用抗癫药物患者中106 例症状完全控制、8 例偶有发作、3 例未见明显缓解。其中，家族性组发病年龄低于（t = 2.376，P =0.019）、发作持续时间短于（χ² = 7.731，P = 0.021）散发性组。 结论 通过大样本临床数据分析和总结中国发作性运动诱发性运动障碍临床表型特点，以期为临床诊断与治疗提供帮助。

关键词: 运动障碍, 表型

Abstract:

Background  Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investigate the clinical features of PKD in a large Chinese population.  Methods  One hundred and ninety five patients diagnosed as primary PKD were recruited. For all of the participants, neurological examinations were conducted and clinical manifestations were recorded and summarized in self - made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients.  Results  Among all of the 195 PKD patients in the present study, the gender ratio was 4.42∶1 (male∶ female). The average age of onset was (12.32 ± 3.49) years. There were 162 patients (83.08%) manifestated with pure form and 33 (16.92%) with complicated form of PKD. Among them 16 patients (8.21%) had essential tremor (ET), and 144 patients (73.85% ) had premonitory symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks were 68.72% (134/195), 4.10% (8/195) and 27.18% (53/195) repectively. There were 134 cases (68.72% ) had facial involvement. It was recorded that 115 (58.97%), 54 (27.69%) and 26 (13.33%) patients had frequency of attack < 10 times/d, 10-20 times/d and > 20-30 times/d respectively. The percentages of patients whose duration of attack <10 s, 10-30 s and > 30-60 s were 60% (117/195), 29.74% (58/195) and 10.26% (20/195) respectively. There were 64 patietns (32.82%) with family history of PKD and 131 (67.18%) were sporadic PKD patients. Up to 40% (78/195) of patients did not require/take medications, as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients (60% ) prescribed with anticonvulsants, 114 patients showed a good response, including complete control (N = 106) and partial control (N = 8), and 3 patients were nonresponsive. In comparison with sporadic PKD patients, familial PKD patients had earlier age of onset (t = 2.376, P = 0.019) and shorter duration of attack (χ² = 7.731, P = 0.021) respectively. Conclusions We summarized the clinical characteristics of PKD patients in mainland China. Through the analysis of large sample data, we hope to improve and standardize the diagnosis and treatment of PKD clinically.

Key words: Movement disorders, Phenotype