痉挛性轻瘫-耳聋综合征
Spastic paraparesis-deafness syndrome
ORPHA:2815疾病
定义 英文原文（暂无中文）
A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986.
别名
痉挛性截瘫-听力丧失综合征
基本事实
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 13
极常见 99–80%6
- 步态异常 HP:0001288
- 偏瘫/轻偏瘫 HP:0004374
- 反射亢进 HP:0001347
- 痛觉障碍 HP:0007328
- 感音神经性听力受损 HP:0000407
- 痉挛性双下肢瘫 HP:0002313
常见 79–30%5
- 运动异常 HP:0100022
- 白内障 HP:0000518
- 性腺功能减退症 HP:0000135
- 身材矮小 HP:0004322
- 视觉障碍 HP:0000505
偶见 29–5%2
- 共济失调 HP:0001251
- 眼球震颤 HP:0000639
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）