【摘要】 目的探讨家族性发作性运动诱发性运动障碍(paroxysmalkinesigenicdyskinesia,PKD)的临床及遗传学特点,提高临床医师对该病的认识。方法总结分析3个汉族家族性PKD家系患者的临床资料,并进行详细的家系调查。结果3个家系共有患者25例,其中男性16例,女性9例。起病年龄1~10岁,发作由运动诱发,发作时意识清楚,发作持续时间在30s以内。查体未见异常,无明显智能障碍。发作次数10~50次/d,随年龄增长发作次数减少,卡马西平可完全缓解症状。家系遗传方式均符合常染色体显性遗传模式。家系中男性患者的临床表现比女性严重,未经治疗时,女性患者症状自然缓解的年龄比男性患者早。结论家族性PKD的主要遗传方式为常染色体显性遗传,在临床及遗传上可能存在异质性。男性患者临床表现比女性严重,可能与不同种族的遗传异质性有关。女性患者比男性症状轻,自然缓解年龄早,可能导致多数女性患者不完全外显,使得女性发病相对较少。更多还原

【Abstract】 Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesias (PKD). Methods The clinical information of PKD patients from 3 Han families was analyzed and the pedigrees were further investigated. Results There were 25 PKD cases in 3 families, including 16 males and 9 females. The onset age ranged from 1 to 10 years. The attacks were provoked by voluntary movements and each attack lasted less than 30 seconds with no loss of consciousness. No neurological signs and abnormal examination were detected during the intermittent period. There were 10 to 50 attacks per day, but the frequency commonly decreased with the increase of age. The attacks can be controlled by carbamazepine. The disease was inherited in an autosomal dominant mode. Males were affected more severely than females. Conclusions The main inheritance mode of familial PKD is autosomal dominant. There may be clinic or genetic heterogeneity.更多还原