Introduction Amyotrophic lateral sclerosis (ALS) diagnosis could be challenging in some cases and a thorough workup should be done to rule out ALS mimics. Thus, diagnosis should be made by an experienced neurologist and should be regularly reviewed. Objectives Review challenging cases from the ALS clinic that were misdiagnosed as ALS. Method/patients This is a descriptive study. We registered data of all patients coming for evaluation in the period between December 2018 and January 2020 at the international medical center (IMC) where the ALS specialized clinic is located. All patients underwent thorough clinical assessment according to the EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS), and the diagnosis of ALS was made based on El Escorial revised criteria. Results The records of 30 patients were available for review. Twenty-four patients out of 30 patients (80%) were diagnosed with ALS, and 6 patients (20%) were diagnosed with other disorders (ALS mimics). In the ALS group (24 patients), there are 18 males and 6 females (male to female ratio is 3:1); mean age of onset of ALS patients is 49.2 years ± SD 15.1 years; 18 patients (75%) had limb onset ALS and 6 patients (25%) had bulbar onset ALS. In the ALS mimics group (6 patients), there were 3 patients with multifocal motor neuropathy (MMN); 1 patient with celiac disease, 1 patient with mesothelioma, and 1 patient with cervical myelopathy. Discussion The percentage of ALS mimics in our study is higher than that reported in previous studies. This could be due to the small sample size and the deficiency of specialized ALS centers across the country. MMN was the most common ALS mimic syndrome. Factors leading to change the diagnosis from ALS to another ALS mimic disorder were the adherence to El Escorial revised criteria for the diagnosis of ALS, following EFNS guidelines for management, and looking for demyelinating features in electrophysiological studies according to the EFNS criteria.

中文翻译：

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肌萎缩侧索硬化 (ALS) 的诊断困境：来自埃及第一家 ALS 专科诊所的见解

介绍 肌萎缩侧索硬化 (ALS) 诊断在某些情况下可能具有挑战性，应进行彻底检查以排除 ALS 模拟。因此，诊断应由有经验的神经科医生进行，并应定期复查。目标 审查来自 ALS 诊所的被误诊为 ALS 的具有挑战性的病例。方法/患者 这是一项描述性研究。我们在 ALS 专科诊所所在的国际医疗中心 (IMC) 登记了 2018 年 12 月至 2020 年 1 月期间前来评估的所有患者的数据。所有患者均根据 EFNS 肌萎缩侧索硬化（MALS）临床管理指南进行全面的临床评估，并根据 El Escorial 修订标准做出 ALS 的诊断。结果 30 名患者的记录可供审查。30 名患者中有 24 名 (80%) 被诊断为 ALS，6 名患者 (20%) 被诊断为其他疾病（ALS 模拟）。ALS组（24例），男18例，女6例（男女比例3：1）；ALS 患者的平均发病年龄为 49.2 岁 ± SD 15.1 岁；18 名患者 (75%) 患有肢体起病 ALS，6 名患者 (25%) 患有延髓起病 ALS。ALS模拟组（6例）中，多灶性运动神经病（MMN）3例；1例乳糜泻患者，1例间皮瘤患者，1例脊髓型颈椎病患者。讨论 在我们的研究中，ALS 模拟物的百分比高于以前的研究报告的百分比。这可能是由于样本量小以及全国缺乏专门的 ALS 中心所致。MMN 是最常见的 ALS 模仿综合征。导致诊断从 ALS 变为另一种 ALS 类似疾病的因素是遵守 El Escorial 修订的 ALS 诊断标准，遵循 EFNS 管理指南，并根据 EFNS 标准在电生理学研究中寻找脱髓鞘特征。