IFIH1-related hereditary spastic paraplegia
定义 英文原文（暂无中文）
A rare pure hereditary spastic paraplegia characterized by spastic paraparesis and normal neuroimaging (no leukodystrophy or calcification in the brain). It is a slowly progressing disease in which patients present with varying degrees of toe-walking, frequent falls and a spastic gait, as well as increased tone or obvious spastic paralysis, weakness, and hyperreflexia of the lower limbs. Additional clinical features may include gross hematuria, fibrillation and atrophy of the tongue muscles, and upper limb involvement such as bilateral upper extremity weakness, hypotonia, and atrophy of the interosseous and thenar muscles in the hands. Chilblain lesions and intellectual disability are absent.
别名
Interferon induced with helicase C domain 1-related hereditary spastic paraplegia
基本事实
- 遗传方式
- 常染色体显性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| IFIH1 | interferon induced with helicase C domain 1 | 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）