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庞贝病患者的感觉神经病变:伊朗的一系列病例

Marzieh Babaee¹, Mahdieh Rahmati², Shima Dehdahsi^3,4

¹Physical medicine & rehabilitation research center, School of medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

BMC musculoskeletal disorders

|December 28, 2024

概括

神经病变在庞培病中很常见,影响超过77%的患者. 早期对这种致残的疾病进行查对于更好地管理庞培病并发症至关重要.

科学领域:

神经学神经学
代谢障碍代谢障碍代谢障碍
遗传学是一个遗传学.

背景情况:

庞培病是一种罕见的遗传性疾病,导致肌肉中的糖原积累.
虽然波佩氏病主要影响肌肉,但可以表现为非肌肉症状,如听力损失.
这些症状表明神经系统或感官器官可能受到影响.

研究的目的:

调查庞培病患者中小和大纤维神经病变的流行情况.
评估特定诊断工具在此群体中用于神经病变检测的有用性.

主要方法:

一个案例系列的9个庞培病患者没有先前的神经病变的投诉.
小纤维神经病变通过小纤维神经病变查清单 (SFNSL) 和SUDOSCAN^R进行评估.
交感皮肤反应 (SSR) 和神经传导研究评估了交感系统和大纤维神经病变.

主要成果:

在使用SFNSL的77.8%的患者中发现了小纤维神经病变.
大约30%的患者在电生理学测试 (SSR,SUDOSCAN,神经传导研究) 中呈阳性结果.
具有阳性电生理学发现的患者也具有阳性SFNSL结果.

结论:

神经病变是庞培病中经常出现的并发症.
查神经病变在庞培病管理中至关重要.
早期检测可以帮助减轻神经病变的残疾影响.

关键词:

糖原储存疾病II类型 lysosomal 储存疾病 lysosomal 储存疾病神经系统神经系统周围神经系统疾病周围神经系统疾病小纤维神经病变小纤维神经病变

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