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闭锁综合征

Locked-in syndrome

ORPHA:2406疾病

定义 英文原文(暂无中文)

A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders.

别名

脑延脊髓中断

基本事实

遗传方式
不适用
发病年龄
各年龄段
患病率
<1 / 1 000 000

临床表型 16

极常见 99–80%12

  • 眼部异常 HP:0000478
  • 声音异常 HP:0001608
  • 视力异常 HP:0000504
  • 构音障碍 HP:0002425
  • 非典型行为 HP:0000708
  • 脑瘫 HP:0100021
  • 复视 HP:0000651
  • 肌张力增高 HP:0001276
  • 呼吸功能不全 HP:0002093
  • 痉挛 HP:0001257
  • 四肢轻瘫 HP:0002273
  • 四肢瘫 HP:0002445

常见 79–30%3

  • 唾液分泌过多 HP:0003781
  • 喂养困难 HP:0011968
  • 反复呼吸道感染 HP:0002205

偶见 29–5%1

  • 听力受损 HP:0000365

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)