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抗合成酶综合征导致渐进的步态障碍

Orsolya Györfi¹, Danuta Szirmai², Gréta Benkő-Zaja²

¹Department of Neurosurgery and Neurointervention, Semmelweis University, Budapest, Hungary gyorfi.orsolya@semmelweis.hu.

Practical neurology

|November 11, 2025

概括

抗合成酶综合征是炎症性肌肉病的原因,涉及肺和肌肉问题. 这个案例研究强调了一个女性.

科学领域:

风湿病学和神经病学
免疫学免疫学免疫学
罕见疾病罕见疾病

背景情况:

抗合成酶综合征 (AS) 是异常性炎症性肌肉病的重要原因,占病例的三分之一.
AS的特征是针对氨基酸-tRNA合成酶酶的自身抗体.
临床表现通常包括间歇性肺病,肌炎和关节炎.

研究的目的:

报告一种抗合成酶综合征病例,表现为长期的步态障碍和肌肉虚弱.
为了说明AS在患有非典型和缓慢进展的症状的患者的诊断过程.
为了证明免疫抑制治疗在AS的治疗疗效.

主要方法:

详细的临床病史和神经学检查,重点关注步态障碍和肌肉衰弱.
综合的神经生理学评估,以评估神经和肌肉功能.
广泛的免疫学工作,包括对氨基酸-tRNA合成酶的自身抗体测试.
监测患者对治疗的反应.

主要成果:

一位67岁的妇女在7年内出现了恶化的步态障碍和肌肉虚弱,加剧了发烧性疾病.
诊断调查证实了抗合成酶综合征.
患者在接受皮质类固醇和甲醇治疗后显示出显著的临床改善.

结论:

抗合成酶综合征可以表现为微妙,渐进的神经症状,包括步态障碍和肌肉病.
结合神经生理学和免疫学测试的彻底诊断方法对于识别AS至关重要.
早期诊断和用皮质类固醇和甲铁酸治疗可以在患有抗合成酶综合征的患者中获得良好的结果.

关键词:

在EMGEMGEMGEMGEMGEMGEMGEMGEMGEM 肌肉病变 (myopathy) 是一种病变.

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