指伸肌发育不良-多发性神经病
Digital extensor muscle aplasia-polyneuropathy
ORPHA:2926疾病
定义 英文原文(暂无中文)
Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.
别名
多发性神经病-手部缺陷综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 9
极常见 99–80%6
- 神经传导速度异常 HP:0040129
- 骨骼肌发育不良/发育不全 HP:0001460
- 手指弯曲 HP:0100490
- 痛觉障碍 HP:0007328
- 肌营养不良 HP:0003560
- 骨骼肌萎缩 HP:0003202
常见 79–30%3
- 体温调节异常 HP:0004370
- 不耐热 HP:0002046
- 少汗症 HP:0000966
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)