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目的探讨发作性运动诱发性运动障碍(paroxysmalkinesigenicdyskinesia,PKD)的临床特征及遗传特点。方法对6个中国汉族PKD家系共122名成员进行随访,包括患者26例,总结分析其临床表现、遗传特点、辅助检查及预后。结果本组6个家系共有患者26例,其中男性18例,女性8例(男∶女=2.25∶1)。患者发病年龄为4~30岁,均以突然运动诱发,表现为肢体的不能控制的肌张力障碍、舞蹈、投掷样动作等,每次发作约持续几秒到十几秒,持续时间最长不超过1min,平均每天发作数次,不伴意识障碍。神经系统检查、脑电图、头颅影像学检查等均无阳性发现。多数患者可自然缓解,抗癫药物治疗有效。6个家系中4个家系有连续2代以上发病,符合常染色体显性遗传;2个家系只有一代患者,且均为同胞兄弟/姐妹,符合常染色体隐性遗传。通过家系内比较,发现4个显性遗传家系均有子代较父代发病年龄提前、发作频率增加、病程延长等现象,提示存在遗传早现(anticipation)。结论PKD是一种神经系统的常染色体遗传病,既有显性遗传又有隐性遗传,具有遗传和临床异质性(heterogeneity)。中国汉族人群中显性遗传的PKD家系存在遗传早现现象。
Objective To investigate the clinical features and genetic characteristics of paroxysmalkinesigenic dyskinesia (PKD). Methods A total of 122 PKD pedigrees of 6 Chinese Han patients were followed up, including 26 patients. The clinical manifestations, genetic characteristics, auxiliary examinations and prognosis were analyzed. Results There were 26 patients in 6 families in this study, including 18 males and 8 females (male: female = 2.25: 1). Patients with age of 4 to 30 years old, were induced by sudden exercise, manifested as limb uncontrollable dystonia, dance, throwing kind of action, each episode lasts for a few seconds to ten seconds, the longest duration More than 1min, an average of several episodes per day, not associated with disturbance of consciousness. Nervous system examination, electroencephalogram, craniography and so no positive findings. Most patients can be naturally relieved, anti-epileptic drug treatment effective. The four pedigrees of 6 pedigrees had morbidity of more than two generations and were consistent with autosomal dominant inheritance. Only one generation of two pedigrees were sibling siblings, which was consistent with autosomal recessive inheritance. According to the pedigree comparison, it was found that the four dominant genetic families had earlier onset age, increased seizure frequency and longer duration of disease than their parents, suggesting the existence of genetic anticipation. Conclusions PKD is a nervous system autosomal genetic disease, both dominant and recessive, with genetic and clinical heterogeneity. The phenotypically inherited PKD pedigrees in the Chinese Han population present a premature inheritance.