先天性肌营养不良-呼吸衰竭-皮肤异常-关节松弛症
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
定义 英文原文（暂无中文）
A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions.
别名
先天性肌营养不良Davignon-Chauveau型
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TRIP4 | thyroid hormone receptor interactor 4 | Disease-causing germline mutation(s) in |
临床表型 30
极常见 99–80%4
- EMG:肌病样异常 HP:0003458
- 克尔里病，贯穿性角化过度病 HP:0007502
- 关节过度活动 HP:0001382
- 肌肉无力导致的呼吸功能不全 HP:0002747
常见 79–30%18
- 皮肤弹性异常 HP:0010647
- 中央成核的骨骼肌纤维 HP:0003687
- 干性皮肤 HP:0000958
- 喂养困难 HP:0011968
- 胃食管反流 HP:0002020
- 婴儿期胃造口管饲 HP:0011471
- 全身性肌张力减低 HP:0001290
- 高腭 HP:0000218
- 肌纤维直径变异性增大 HP:0003557
- 四肢肌肉无力 HP:0003690
- 小核肌病 HP:0003789
- 运动发育迟缓 HP:0001270
- 颈肌无力 HP:0000467
- 漏斗胸 HP:0000767
- 头部控制能力弱 HP:0002421
- 反复呼吸道感染 HP:0002205
- 脊柱侧弯 HP:0002650
- 脊柱强直 HP:0003306
偶见 29–5%8
- 隐睾 HP:0000028
- 青春期发育延迟 HP:0000823
- 语言发育迟缓 HP:0000750
- 肌酸磷酸激酶轻度升高 HP:0008180
- 多发性关节挛缩 HP:0002828
- 超重 HP:0025502
- 足外翻 HP:0008081
- 哭声微弱 HP:0001612
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）