肌阵挛性癫痫伴破碎红纤维综合征
MERRF
ORPHA:551疾病
定义 英文原文（暂无中文）
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.
别名
肌阵挛性癫痫伴碎红纤维
基本事实
- 遗传方式
- 线粒体遗传
- 发病年龄
- 成年期、儿童期
- 患病率
- 1-9 / 1 000 000（Sweden）
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Disease-causing germline mutation(s) in |
| MT-TL1 | mitochondrially encoded tRNA-Leu (UUA/G) 1 | Disease-causing germline mutation(s) in |
| MT-TK | mitochondrially encoded tRNA-Lys (AAA/G) | Disease-causing germline mutation(s) in |
| MT-RNR1 | mitochondrially encoded 12S rRNA | Candidate gene tested in |
| MT-TQ | mitochondrially encoded tRNA-Gln (CAA/G) | Candidate gene tested in |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | Disease-causing germline mutation(s) in |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | Disease-causing germline mutation(s) in |
| MT-TS2 | mitochondrially encoded tRNA-Ser (AGU/C) 2 | Candidate gene tested in |
| MT-TF | mitochondrially encoded tRNA-Phe (UUU/C) | Disease-causing germline mutation(s) in |
| MT-TP | mitochondrially encoded tRNA-Pro (CCN) | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%7
- 运动异常 HP:0100022
- 共济失调 HP:0001251
- 肌电图异常 HP:0003457
- 全面性肌阵挛发作 HP:0002123
- 肌病 HP:0003198
- 破碎红纤维 HP:0003200
- 感音神经性听力受损 HP:0000407
常见 79–30%4
- 认知功能损害 HP:0100543
- 多发性脂肪瘤 HP:0001012
- 视神经萎缩 HP:0000648
- 身材矮小 HP:0004322
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）