先天性肌营养不良
Congenital muscular dystrophy
定义 英文原文（暂无中文）
A rare clinically and genetically heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness, delayed motor milestones and joint contractures. Feeding difficulty, orthopedic and respiratory complications, that may be life-threatening, often develop in the course of the disease. Intellectual disability, structural brain abnormalities, ocular abnormalities (such as optic atrophy, retinal changes), seizures and cardiomyopathy are also reported to be associated with different disorders belonging to this group. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.
别名
CMD、MDC
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 29来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ACTA1 | actin alpha 1, skeletal muscle | ORPHA:97244 |
| B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | ORPHA:588 |
| B4GAT1 | beta-1,4-glucuronyltransferase 1 | ORPHA:899 |
| CHKB | choline kinase beta | ORPHA:280671 |
| COL12A1 | collagen type XII alpha 1 chain | ORPHA:75840 |
| COL6A1 | collagen type VI alpha 1 chain | ORPHA:75840 |
| COL6A2 | collagen type VI alpha 2 chain | ORPHA:75840 |
| COL6A3 | collagen type VI alpha 3 chain | ORPHA:75840 |
| CRPPA | CDP-L-ribitol pyrophosphorylase A | ORPHA:588 |
| DAG1 | dystroglycan 1 | ORPHA:899 |
| DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | ORPHA:329178 |
| DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | ORPHA:263494 |
| DYSF | dysferlin | ORPHA:199329 |
| FKRP | fukutin related protein | ORPHA:588 |
| FKTN | fukutin | ORPHA:588 |
| GMPPB | GDP-mannose pyrophosphorylase B | ORPHA:588 |
| INPP5K | inositol polyphosphate-5-phosphatase K | ORPHA:662184 |
| ITGA7 | integrin subunit alpha 7 | ORPHA:34520 |
| LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | ORPHA:899 |
| LMNA | lamin A/C | ORPHA:157973 |
| POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | ORPHA:588 |
| POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | ORPHA:899 |
| POMK | protein O-mannose kinase | ORPHA:899 |
| POMT1 | protein O-mannosyltransferase 1 | ORPHA:588 |
| POMT2 | protein O-mannosyltransferase 2 | ORPHA:588 |
| RXYLT1 | ribitol xylosyltransferase 1 | ORPHA:899 |
| SELENON | selenoprotein N | ORPHA:97244 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:319332 |
| TRIP4 | thyroid hormone receptor interactor 4 | ORPHA:486815 |
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）