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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)