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

【摘要】：目的分析不伴有感覺異�？夏岬喜〉呐R床特征、血清學檢查、電生理檢查等,以指導臨床診斷降低誤診率。方法收集經基因明確診斷的肯尼迪病5例,詳細詢問其病史,進行全面的體格檢查包括詳盡的神經系統(tǒng)查體,收集并分析其實驗室檢查指標、電生理檢查特點,及基因測定AR基因1號外顯子CAG重復序列。結果5例患者均無明顯陽性家族史,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、四肢近端肌肉無力;5例患者均無臨床及電生理測定的感覺異常。結論肯尼迪病是一種累及下運動神經元的神經變性疾病,感覺不受累的患者也應考慮肯尼迪病,確診依賴基因測定。
[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)科大學第二醫(yī)院;
【分類號】：R744.8

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