在PURA综合征中运动障碍:视频案例系列
Ana C S Crippa1, Eli Paula Bacheladenski1, Danielle C B Rodrigues1
1Neurology Pediatric Unit Federal University of Paraná Curitiba Brazil.
Movement disorders clinical practice
|October 23, 2023
概括
普拉综合征是一种罕见的遗传性疾病,经常出现新生儿低血压和发育迟缓. 在四名患者中观察到类似的混合高动力运动障碍,这表明它可能是关键的诊断线索.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 普拉综合征是一种罕见的遗传疾病.
- 它的特征是新生儿低血压,神经发育迟缓,面部形,发作和复杂的运动障碍.
- 没有明确的基因型-表型关联被确定,尽管报告了致病变异.
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