进行性脑脊髓炎伴有强直及肌阵挛
Progressive encephalomyelitis with rigidity and myoclonus
ORPHA:438266疾病亚型
定义 英文原文（暂无中文）
A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas.
别名
PERM
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期、婴儿期
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）