不伴感觉神经受累的肯尼迪病5例临床特征分析

发布时间：2018-07-08 20:07

本文选题：肯尼迪病 + AR突变蛋白　；参考：《中国神经精神疾病杂志》2017年08期

【摘要】：目的分析不伴有感觉异常肯尼迪病的临床特征、血清学检查、电生理检查等,以指导临床诊断降低误诊率。方法收集经基因明确诊断的肯尼迪病5例,详细询问其病史,进行全面的体格检查包括详尽的神经系统查体,收集并分析其实验室检查指标、电生理检查特点,及基因测定AR基因1号外显子CAG重复序列。结果5例患者均无明显阳性家族史,均为男性,平均起病年龄(39.8±7.2)岁,从发病到确诊平均病程(9.0±5.2)年,3例患者起病部位为双下肢近端无力,1例患者为口周及颊部"肉跳"感,1例患者为男性乳腺发育;最显著的临床表现为舌肌萎缩、舌肌纤颤、四肢近端肌肉无力;5例患者均无临床及电生理测定的感觉异常。结论肯尼迪病是一种累及下运动神经元的神经变性疾病,感觉不受累的患者也应考虑肯尼迪病,确诊依赖基因测定。
[Abstract]:Objective to analyze the clinical features, serological examination and electrophysiological examination of Kennedy's disease without sensory abnormality in order to guide the clinical diagnosis to reduce the misdiagnosis rate. Methods five cases of Kennedy's disease diagnosed by gene were collected, and their history was inquired into in detail. A comprehensive physical examination including a detailed physical examination of the nervous system was carried out, and the laboratory examination indexes and electrophysiological examination characteristics were collected and analyzed. And to detect the CAG repeat sequence of AR gene exon 1. Results there was no significant positive family history in all the 5 patients, all of them were male, the mean onset age was (39.8 卤7.2) years old, and the mean age of onset was (39.8 卤7.2) years old. From the onset to the diagnosis of the mean course of disease (9.0 卤5.2) years, the onset site of 3 patients was from the proximal end of both lower extremities. One patient had a sense of "jumping" around the mouth and buccal region, and the most significant clinical manifestation was atrophy of the tongue muscle and fibrillation of the muscle of the tongue, and the most significant clinical manifestation was the atrophy of the tongue muscle and the fibrillation of the muscle of the tongue. There were no clinical and electrophysiological sensory abnormalities in 5 patients with proximal muscle weakness in extremities. Conclusion Kennedy's disease is a neurodegenerative disease involving inferior motor neurons.
【作者单位】：河北医科大学第二医院;
【分类号】：R744.8

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