进行性神经性腓骨肌萎缩症 参考文献 外部連結 导航菜单改善这篇條目G60.0356.158152343000727orthoped/43pmr/29D002607Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1APMID 10869062doi:10.1093/brain/123.7.1516进行性神经性腓骨肌萎缩症

周圍神經系統疾病细胞支架缺陷症候群肌肉萎缩症人名疾病


遗传疾病血脂异常肾上腺脑白质失养症碳水化合物代谢葡萄糖-6-磷酸脱氢酶缺乏症丙酮酸脱氢酶缺乏症IIb型溶酶体储积症脂质沉积病法布瑞氏症黏多糖贮积症亨特综合征嘌呤嘧啶代谢莱施-尼汉综合征红绿色盲眼白化病1型诺里病无脉络膜进行性神经性腓骨肌萎缩症卡彭特综合征格里斯塞利综合征2型中性粒细胞免疫缺陷综合症







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进行性神经性腓骨肌萎缩症
(Charcot-Marie-Tooth disease、C-M-T)

Charcot-marie-tooth foot.jpg

进行性神经性腓骨肌萎缩症患者的脚
分类和外部资源
醫學專科
神經學

ICD-10

G60.0

ICD-9-CM

356.1
DiseasesDB
5815 2343
MedlinePlus
000727
eMedicine
orthoped/43 pmr/29
MeSH
D002607

[编辑此条目的维基数据]

进行性神经性腓骨肌萎缩症,即(Charcot-Marie-Tooth disease、C-M-T,又称腓骨肌萎缩症恰克-馬利-杜斯氏症),是以三位最早发现此病的法国研究者的姓氏共同命名的。其主要表现是双腿渐进性无力,患者发病年龄一般在二十到四十岁之间,是一种罕见的遗传疾病。DNA检测问世以前,腓骨肌萎缩症只能通过临床症状诊断,因为无法早期诊断,在医学教科书或者医学刊物中所讨论的病例都是很严重的类型[1]。目前可以通过DNA检测技术进行CMT的早期诊断。一旦检测结果呈阳性,证明有基因缺陷,即使没有表征的症状,也应马上调整自己的生活,而不至于功能透支,引病上身。



参考文献




  1. ^ Krajewski KM, Lewis RA, Fuerst DR; 等. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain. 2000,. 123 ( Pt 7) (7): 1516–27. PMID 10869062. doi:10.1093/brain/123.7.1516.  引文格式1维护:显式使用等标签 (link)



外部連結



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