局部肢体僵硬综合征
Focal stiff limb syndrome
ORPHA:443804疾病亚型
定义 英文原文（暂无中文）
A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.
别名
局部僵直综合征
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
临床表型 17
常见 79–30%10
- 广场恐怖症 HP:0000756
- 抗谷氨酸脱羧酶抗体阳性 HP:0025329
- 自身免疫 HP:0002960
- 反射活跃 HP:0001348
- EMG:休息中持续的运动单元活动 HP:0100283
- 跌倒 HP:0002527
- 步态异常 HP:0001288
- 行走不能 HP:0002540
- 肌肉痉挛 HP:0003394
- 强直 HP:0002063
偶见 29–5%7
- 抗两性蛋白抗体 HP:5000002
- 抗DPPX抗体 HP:5000007
- 抗桥尾蛋白抗体 HP:5000012
- 焦虑 HP:0000739
- 冻结步态 HP:0031825
- 关节僵硬 HP:0001387
- 肢体肌阵挛 HP:0045084
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）