微管聚集性肌病
Tubular aggregate myopathy
ORPHA:2593疾病
定义 英文原文（暂无中文）
A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ORAI1 | ORAI calcium release-activated calcium modulator 1 | Disease-causing germline mutation(s) (gain of function) in |
| STIM1 | stromal interaction molecule 1 | Disease-causing germline mutation(s) (gain of function) in |
| CASQ1 | calsequestrin 1 | Disease-causing germline mutation(s) in |
临床表型 9
极常见 99–80%6
- EMG:肌病样异常 HP:0003458
- 疲劳性肌无力 HP:0003473
- 近端肢体肌肉疲劳性无力 HP:0030200
- 肌纤维管状包涵体 HP:0100301
- 肌肉痉挛 HP:0003394
- 肌痛 HP:0003326
常见 79–30%2
- 中央成核的骨骼肌纤维 HP:0003687
- 肌纤维直径变异性增大 HP:0003557
偶见 29–5%1
- 2型肌纤维萎缩 HP:0003554
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）