家族型特发性震颤的临床分析

目的 对特发性震颤 (essential tremor, ET) 患者进行研究, 以便于更深一步认识疾病的遗传特点和疾病转归.方法 对7个家族39名特发性震颤患者的发病年龄、病程和震颤幅度、药物敏感性、并发症等相关性进行临床总结和统计分析.结果 震颤幅度和发病年龄相关系数为rs=0.542, 和病程相关系数rs=0.168;口服盐酸普萘洛尔在中青年组和老年组有效率分别为79.2%和35.7%, P=0.014;饮酒试验在中青年组和老年组有效率分别为66.7%和28.6%, P=0.042;中青年组和老年组并发症发生率分别为8.3%, 42.9%, P=0.042.结论 随着发病年龄的增长, 听力下降和认知功能下降等并发症明显增多;随着病程延长, 震颤幅度不断增加, 药物敏感性逐渐下降。提示:ET易向其它变性疾病转化, 易合并其它变性疾病, 这种变化和年龄、遗传有一定相关性, 而非传统认为的单纯良性疾病.

Clinical Analysis of Familial Essential Tremor

Objective To further understand the genetic characteristics and the outcome of Familial essential tremor.Methods Clinical summary and statistical analysis were performed on the onset age, course of disease of ET, whether it is related to tremor amplitude, drug sensitivity and complication of 39 patients in 7families. Results The correlation coefficient between tremor amplitude and age at onset was rs =0.542, Correlation coefficient of tremor amplitude and duration rs =0.168; The effective rates of oral propranolol in young middle-aged group and elderly group were 79.2% and 35.7%, P=0.014; The effective rates of drinking test were 66.7% and 28.6%, P = 0.042, respectively, in young middle-aged group and elderly group;The incidence of complications in young middle-aged group and elderly group was 8.3% and 42.9%, respectivdy P =0.042.Conclusions With the growth of onset age, hearing loss and cognitive decline and other complications increase significantly; With the duration of the disease, tremor increases amplitude, drug sensitivity gradually decreases.It suggests that ET is easy to transform to other degenerative diseases, also easy to merge other degenerative diseases, This change has a certain relevance with age and heredity. Is is rather than a simple benign disease.