罕见病知识库 RareSeen

儿童良性阵发性强直性上凝视伴共济失调

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179疾病

定义 英文原文(暂无中文)

Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.

别名

Ouvrier-Billson综合征

基本事实

发病年龄
婴儿期、新生儿期
患病率
<1 / 1 000 000

临床表型 3

极常见 99–80%3

  • 眼球运动异常 HP:0000496
  • 发作性共济失调 HP:0002131
  • 眼球震颤 HP:0000639

外部标识与链接

发现这一页有错误?告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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)