COQ7-related distal hereditary motor neuropathy
ORPHA:658778疾病暂无中文名
定义 英文原文（暂无中文）
A rare autosomal recessive distal hereditary motor neuropathy characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.
基本事实
- 遗传方式
- 常染色体隐性
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COQ7 | coenzyme Q7, hydroxylase | Disease-causing germline mutation(s) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）