肯尼迪病的临床与电生理特征分析

Clinical and electrophysiological characteristics of Kennedy disease

目的:探讨肯尼迪病的临床及电生理特征,为提高该病的诊断提供帮助。方法:收集2013年3月至2019年4月广东省中医院8例经基因诊断确诊的肯尼迪病患者临床资料,包括一般情况、病史、体格检查、实验室检查、CAG基因测序结果,并进行归纳总结。结果:8例患者均为成年男性,多以下肢无力首发,主要表现为肌无力、四肢和舌肌萎缩、肌束震颤、延髓麻痹和乳房发育,部分患者合并双手震颤和感觉异常。实验室检查提示肌酸激酶、总胆固醇、甘油三酯、雌二醇升高;基因检测CAG异常重复扩增,重复数为43~55次。电生理检查显示运动神经和感觉神经传导均存在异常,且以动作电位波幅下降为主;针极肌电图显示广泛神经源性损害。结论:肯尼迪病多为慢性病程,主要表现为下运动神经元系统损害、延髓麻痹和男性乳房发育,同时可出现肌酶升高、性激素水平紊乱和代谢异常,CAG重复次数显著增多,电生理表现为伴有感觉神经和运动神经同时受累的广泛神经源性损害。

Objective: To explore the clinical and electrophysiological characteristics of Kennedy disease(KD), and improve the diagnosis of the disease. Methods: Clinical data of 8 patients with geneconfirmed KD in Guangdong Provincial Hospital of Traditional Chinese Medicine from March 2013 to April 2019 were collected and summarized, including general conditions, medical history, physical examination, laboratory examination, and CAG gene sequencing results. Results: All the 8 patients were adult males, and most of them started with lower limb weakness, mainly manifested as muscle weakness, limb and tongue atrophy, muscle bundle tremor, bulbar paralysis and breast development, and some patients combined with both hand tremor and paresthesia. Laboratory examination showed that creatine kinase, total cholesterol, triglyceride and estradiol increased. Gene detection CAG was abnormally repeated, and the number of repeats was 43-55 times. Electrophysiological examination showed that motor nerve and sensory nerve conduction were abnormal, and the amplitude of action potential decreased mainly. Needle-pole EMG showed extensive neurogenic damage. Conclusion: KD is a chronic disease, mainly characterized by lower motor neuron system damage, bulbar paralysis and male breast development. At the same time, it can appear elevated muscle enzymes, disorder of sex hormone levels and abnormal metabolism. The number of CAG repetitions increases significantly. Electrophysiological manifestations are extensive neurogenic damage with simultaneous involvement of sensory nerve and motor nerve.