Hawas Yousef, Hamad Abdullah Ashraf, Meshref Mostafa, Elbehary Mohamed, Mohamed Rashad G, Elshahat Ahmed, Mabrouk Manar Alaa, Nashwan Abdulqadir J, Fouda Basem Hamdy
Faculty of Medicine, Tanta University, Gharbeya, Egypt.
Faculty of Medicine, Menoufia University, Shibin El-Kom, Egypt.
Med Princ Pract. 2025 Apr 10:1-11. doi: 10.1159/000545806.
This review aimed to summarize the current evidence of reported myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) overlap syndrome regarding clinical and laboratory features, diagnostic implications, management, outcomes, and comorbid conditions to raise awareness among healthcare providers and aid in proper care provision.
Recently, a few cases of an unusual association between both diseases have been reported. PubMed, Scopus, and Web of Science were searched from inception until May 2024 to identify eligible studies. After the screening and data extraction, 20 studies with 42 cases suffering from ALS and MG were included.
Forty-two cases were categorized into four groups as follows: the first group had 26 cases with MG onset (age range 26-82 years) preceding ALS (age range 46-83 years). The second group had 9 cases with ALS onset (age range 34-89 years) preceding MG (age range 40-89 years). The third group comprised 5 cases of ALS with positive acetylcholine receptor antibodies but without clinical manifestations of MG. The fourth group involved 2 cases of ALS with initial ocular symptoms that were unresponsive to MG treatments.
The onset of new ptosis or diplopia in ALS patients should prompt clinicians to consider the possibility of a coexisting condition or alternative diagnosis. Additionally, positive acetylcholine receptor antibodies alone are insufficient to diagnose MG if ALS coexists. In patients with ALS, repetitive nerve stimulation tests may be less sensitive for detecting MG. Thus, diagnosing MG in ALS patients should rely on clinical presentation and response to empirical treatment.
本综述旨在总结目前关于重症肌无力(MG)和肌萎缩侧索硬化症(ALS)重叠综合征在临床和实验室特征、诊断意义、管理、结局及合并症方面的证据,以提高医疗服务提供者的认识,并有助于提供恰当的护理。
最近,有几例这两种疾病之间不寻常关联的病例被报道。检索了从创刊至2024年5月的PubMed、Scopus和Web of Science数据库,以确定符合条件的研究。经过筛选和数据提取,纳入了20项研究,共42例患有ALS和MG的病例。
42例病例分为以下四组:第一组有26例,MG发病(年龄范围26 - 82岁)先于ALS(年龄范围46 - 83岁)。第二组有9例,ALS发病(年龄范围34 - 89岁)先于MG(年龄范围40 - 89岁)。第三组包括5例乙酰胆碱受体抗体阳性但无MG临床表现的ALS病例。第四组涉及2例初始有眼部症状且对MG治疗无反应的ALS病例。
ALS患者出现新的上睑下垂或复视应促使临床医生考虑并存疾病或其他诊断的可能性。此外,如果并存ALS,仅乙酰胆碱受体抗体阳性不足以诊断MG。在ALS患者中,重复神经电刺激试验检测MG可能不太敏感。因此,诊断ALS患者中的MG应依靠临床表现和经验性治疗的反应。