Amyotrophic lateral sclerosis (ALS) is a progressive, degenerative neuromuscular disease with limited treatment options. The diagnosis of ALS can be challenging for numerous reasons, resulting in delays that may compromise optimal management and enrollment into clinical trials. Several studies have examined the process and challenges regarding the clinical diagnosis of ALS. Twenty-one studies that were almost exclusively from the English literature published between 1990 and 2020 were identified via PubMed using relevant search terms and included patient populations from the United States, Canada, Japan, Egypt, and several countries in South America and Europe. Probable or definitive ALS patients were identified using El Escorial or revised El Escorial/Airlie House Criteria. Time to diagnosis or diagnostic delay was defined as mean or median time from patient-reported first symptom onset to formal diagnosis by a physician, as recorded in medical records. The typical time to diagnosis was 10-16 months from symptom onset. Several points of delay in the diagnosis course were identified, including specialist referrals and misdiagnoses, often resulting in unnecessary procedures and surgeries. Bulbar onset was noted to significantly reduce time to ALS diagnosis. Future interventions and potential research opportunities were reviewed.

中文翻译：

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肌萎缩侧索硬化的诊断时间和影响诊断延迟的因素

肌萎缩侧索硬化 (ALS) 是一种进行性、退行性神经肌肉疾病，治疗选择有限。由于多种原因，ALS 的诊断可能具有挑战性，导致延误，可能会影响最佳管理和临床试验的注册。几项研究已经检查了有关 ALS 临床诊断的过程和挑战。通过 PubMed 使用相关搜索词确定了几乎完全来自 1990 年至 2020 年间发表的英文文献的 21 项研究，其中包括来自美国、加拿大、日本、埃及以及南美和欧洲几个国家的患者人群。使用 El Escorial 或修订的 El Escorial/Airlie House 标准确定可能或确定的 ALS 患者。诊断时间或诊断延迟定义为从患者报告的第一个症状出现到医生正式诊断的平均或中位时间，如病历中所记录。诊断的典型时间是症状出现后 10-16 个月。确定了诊断过程中的几个延迟点，包括专家转诊和误诊，这通常会导致不必要的程序和手术。注意到延髓发病显着减少了 ALS 诊断的时间。审查了未来的干预措施和潜在的研究机会。经常导致不必要的程序和手术。注意到延髓发病显着减少了 ALS 诊断的时间。审查了未来的干预措施和潜在的研究机会。经常导致不必要的程序和手术。注意到延髓发病显着减少了 ALS 诊断的时间。审查了未来的干预措施和潜在的研究机会。