阵发性肌张力障碍性舞蹈病伴发作性共济失调和痉挛
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
ORPHA:53583疾病
定义 英文原文（暂无中文）
A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.
别名
发作性舞蹈手足徐动症/痉挛状态
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC2A1 | solute carrier family 2 member 1 | Disease-causing germline mutation(s) in |
临床表型 13
极常见 99–80%1
- 发作性运动障碍 HP:0007166
常见 79–30%11
- 锥体束征 HP:0007256
- 舞蹈手足徐动 HP:0001266
- 复视 HP:0000651
- 构音障碍 HP:0001260
- 肌张力障碍 HP:0001332
- 发作性共济失调 HP:0002131
- 头痛 HP:0002315
- 反射亢进 HP:0001347
- 智力障碍 HP:0001249
- 感觉异常 HP:0003401
- 痉挛性截瘫 HP:0001258
罕见 <4–1%1
- 双侧强直- 阵挛发作 HP:0002069
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）