常染色体显性遗传先天性良性脊髓性肌萎缩
Autosomal dominant congenital benign spinal muscular atrophy
ORPHA:1216疾病
定义 英文原文（暂无中文）
A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
别名
先天性良性脊髓性肌萎缩伴挛缩
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TRPV4 | transient receptor potential cation channel subfamily V member 4 | Disease-causing germline mutation(s) in |
临床表型 5
极常见 99–80%5
- 恶病质 HP:0004326
- 远端肌肉萎缩 HP:0003693
- 肌张力减退 HP:0001252
- 关节僵硬 HP:0001387
- 非进行性肌萎缩 HP:0008964
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）