Autosomal recessive ataxia due to PEX16 deficiency
ORPHA:642954疾病暂无中文名
定义 英文原文（暂无中文）
A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases).
别名
Mild peroxisomal disorder due to PEX16 deficiency
基本事实
- 遗传方式
- 常染色体隐性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PEX16 | peroxisomal biogenesis factor 16 | Disease-causing germline mutation(s) in |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）