遗传性颏痉挛
Hereditary geniospasm
ORPHA:53372疾病
定义 英文原文（暂无中文）
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may present more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.
别名
遗传性颏震颤
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
临床表型 7
必现 100%1
- 下颌肌阵挛 HP:0012462
极常见 99–80%1
- 颏肌异常 HP:3000007
偶见 29–5%2
- 社会行为异常 HP:0012433
- 下唇形态异常 HP:0000178
排除 0%3
- 脑电图异常 HP:0002353
- 肌电图异常 HP:0003457
- 意向性震颤 HP:0002080
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）