本文選題：肯尼迪病 + AR突變蛋白��； 參考：《中國(guó)神經(jīng)精神疾病雜志》2017年08期

【摘要】：目的分析不伴有感覺(jué)異�？夏岬喜〉呐R床特征、血清學(xué)檢查、電生理檢查等,以指導(dǎo)臨床診斷降低誤診率。方法收集經(jīng)基因明確診斷的肯尼迪病5例,詳細(xì)詢(xún)問(wèn)其病史,進(jìn)行全面的體格檢查包括詳盡的神經(jīng)系統(tǒng)查體,收集并分析其實(shí)驗(yàn)室檢查指標(biāo)、電生理檢查特點(diǎn),及基因測(cè)定AR基因1號(hào)外顯子CAG重復(fù)序列。結(jié)果5例患者均無(wú)明顯陽(yáng)性家族史,均為男性,平均起病年齡(39.8±7.2)歲,從發(fā)病到確診平均病程(9.0±5.2)年,3例患者起病部位為雙下肢近端無(wú)力,1例患者為口周及頰部"肉跳"感,1例患者為男性乳腺發(fā)育;最顯著的臨床表現(xiàn)為舌肌萎縮、舌肌纖顫、四肢近端肌肉無(wú)力;5例患者均無(wú)臨床及電生理測(cè)定的感覺(jué)異常。結(jié)論肯尼迪病是一種累及下運(yùn)動(dòng)神經(jīng)元的神經(jīng)變性疾病,感覺(jué)不受累的患者也應(yīng)考慮肯尼迪病,確診依賴(lài)基因測(cè)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 鹵7.2) years old, and the mean age of onset was (39.8 鹵7.2) years old. From the onset to the diagnosis of the mean course of disease (9.0 鹵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.
【作者單位】： 河北醫(yī)科大學(xué)第二醫(yī)院;
【分類(lèi)號(hào)】：R744.8

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