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在TANGO2缺乏障碍中,临床病例报告显示了难以治疗的阳性交感性多动性

Kaitlin Morrison¹, Hitoshi Koshiya², Robert Safier²

¹Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

American journal of medical genetics. Part A

|April 18, 2024

概括

二缺乏障碍 (TDD) 可以导致严重的神经退行,并且在罕见的情况下,伴发性交感性多动性 (PSH). 本案例报告强调PSH是潜在的TDD表现,需要进一步研究以获得有效的治疗方法.

科学领域:

神经学神经学
遗传学是一个遗传学.
罕见疾病罕见疾病

背景情况:

二氧化碳缺乏症 (TDD) 是一种罕见的神经退行性疾病,具有多种临床表现.
渐进性脑缩是TDD的一个已知的特征.
在TDD患者中以前没有报告过 Paroxysmal Sympathetic Hyperactivity (PSH) 的情况.

关键词:

这就是TANGO2缺乏的原因.偏激性交感性过度活跃性暴风雨中的风暴.

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