面部首发型感觉和运动神经病
Facial onset sensory and motor neuronopathy
ORPHA:85162疾病
定义 英文原文(暂无中文)
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
别名
FOSMN综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 成年期、老年期
- 患病率
- <1 / 1 000 000
临床表型 7
极常见 99–80%7
- 构音障碍 HP:0001260
- 吞咽困难 HP:0002015
- 肌束震颤 HP:0002380
- 肌肉痉挛 HP:0003394
- 肌无力 HP:0001324
- 感觉异常 HP:0003401
- 骨骼肌萎缩 HP:0003202
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)