腓骨肌萎缩症1E型
Charcot-Marie-Tooth disease type 1E
定义 英文原文（暂无中文）
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
别名
腓骨肌萎缩症-听觉丧失综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期、婴儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PMP22 | peripheral myelin protein 22 | Disease-causing germline mutation(s) in |
临床表型 40
极常见 99–80%6
- 神经传导速度降低 HP:0000762
- 脱髓鞘性周围神经病 HP:0007108
- 下肢远端肌无力 HP:0009053
- 远端感觉障碍 HP:0002936
- 步态异常 HP:0001288
- 感音神经性听力受损 HP:0000407
常见 79–30%21
- 瞳孔形态异常 HP:0000615
- 痛觉异常 HP:0010832
- 肢端感觉障碍 HP:0031006
- 下肢反射消失 HP:0002522
- 小腿肌肉发育不良 HP:0008962
- 下肢远端肌肉肌萎缩 HP:0008944
- 足背屈无力 HP:0009027
- 步态异常 HP:0001288
- 手部肌肉萎缩 HP:0009130
- 手肌无力 HP:0030237
- 下肢反射减弱 HP:0002600
- 上肢反射减弱 HP:0012391
- 触觉障碍 HP:0010830
- 温度觉障碍 HP:0010829
- 下肢振动觉障碍 HP:0002166
- 腓骨肌萎缩 HP:0009049
- 腓骨肌无力 HP:0011727
- 高弓足 HP:0001761
- 姿势不稳 HP:0002172
- 瞳孔对光反应缓慢 HP:0030211
- 瞳孔强直 HP:0012074
偶见 29–5%13
- 瞳孔不等 HP:0009916
- 咳嗽 HP:0012735
- 马蹄内翻变形 HP:0008110
- 步态失平衡 HP:0002141
- 全面发育迟缓 HP:0001263
- 槌状趾 HP:0001765
- 行走不能 HP:0002540
- 手指关节痉挛 HP:0009473
- 极重度感音神经性听力受损 HP:0011476
- 手劈裂 HP:0001171
- 跨阈步态 HP:0003376
- 仰趾内翻足 HP:0008124
- 耳鸣 HP:0000360
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）