良性遗传性舞蹈症
Benign hereditary chorea
ORPHA:1429疾病
定义 英文原文（暂无中文）
A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes.
别名
良性家族性舞蹈症
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NKX2-1 | NK2 homeobox 1 | Disease-causing germline mutation(s) in |
| ADCY5 | adenylate cyclase 5 | Disease-causing germline mutation(s) in |
临床表型 2
极常见 99–80%2
- 运动异常 HP:0100022
- 步态异常 HP:0001288
外部标识与链接
OrphanetOMIM:118700OMIM:215450MONDO:0001595MONDO:1595GARD:1305ICD-10 G25.5ICD-11 8A01.0ClinicalTrials.gov 检索
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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）