脱髓鞘神经病变-关节挛缩综合征
Hypomyelination neuropathy-arthrogryposis syndrome
定义 英文原文（暂无中文）
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CNTNAP1 | contactin associated protein 1 | Disease-causing germline mutation(s) in |
| ADCY6 | adenylate cyclase 6 | Disease-causing germline mutation(s) in |
| LGI4 | leucine rich repeat LGI family member 4 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 5
极常见 99–80%5
- 肌电图异常 HP:0003457
- 肌张力减退 HP:0001252
- 关节活动受限 HP:0001376
- 腱反射减低 HP:0001315
- 呼吸窘迫 HP:0002098
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）