遗传性朊病毒病
Genetic prion diseases
- 上级条目
- 人类朊病毒病
- 层级
- 3 级
定义
遗传性朊病毒病通常表现为认知困难、共济失调和肌阵挛（肌肉群和/或整个肢体突然抽搐）。这些特征的出现顺序和/或主要特征以及其他相关的神经和精神检查结果各不相同。遗传性朊病毒病的三种主要表型是遗传性克-雅病（gCJD）、致死性家族性失眠症（FFI）和GSS综合征（GSS）。虽然这些表型的临床和病理特征相互重叠，但识别这些表型有助于为患者及其家属提供有关预期临床过程的信息。
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course.
子条目 共 5 条
后组配轴 Postcoordination
后组配是在主干编码之后追加的可选扩展轴（如侧别、具体解剖部位、严重程度），用于把「部位 + 侧别 + 病程」等细节一次表达完整。只有标注「必填」的轴在组合编码时必须给出，其余可留空。
- 临床表现hasManifestation可选