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肌肉发育不良的ACHR-阳性神经髓灰质炎:诊断陷和临床管理挑战
Anna Rosa Avallone1, Vincenzo Di Stefano2, Liliana Bevilacqua2
1Neurology Unit, Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University Hospital San Giovanni di Dio e Ruggi D'Aragona, University of Salerno, Salerno, 84131, Italy.
概括
遗传神经病变的罕见同时发生,如 facioscapulohumeral 肌肉发育不良症,与肌痛性骨髓灰质炎 (MG) 需要仔细的诊断. 神经生理学测试和ACHR抗体标位对于识别这种具有挑战性的重叠至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 遗传性肌肉病变和肌肉病变 (MG) 的同时发生是非常罕见的.
- 现有的关于这种综合性疾病的文献有限,需要进一步研究.
研究的目的:
- 探索遗传性肌肉疾病与免疫介导的神经肌肉结合疾病之间的关联.
- 分析由同时发生的肌肉病和M.G.所带来的诊断和治疗挑战.
主要方法:
- 从1987年1月起,在主要的科学数据库 (知识网,PubMed,谷歌学者,科学直接) 中进行了全面的文献搜索.
- 包括三个新的临床病例,呈现出MG和特定肌肉病变 (OPMD,FSHD,DM2).
主要成果:
- 面骨肌肉发育不良症 (FSHD) 成为与通用MG最频繁相关的发育不良症.
- 观察到乙胆受体 (AChR) 抗体标位升高.
- 神经生理学测试被确定为必要的诊断工具.
结论:
- 虽然很少见,但不应忽视MG和肌肉发育不良 (MD) 之间的关联.
- 不寻常的临床表现要求对重叠的疾病进行调查,特别是像MG这样可治疗的疾病.
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