NEuroMuscular Omnicentre, Fondazione Serena Onlus, Piazza Ospedale Maggiore 3, 20162 Milano, Italy; Neurorehabilitation Unit, University of Milan, Milan, Italy.
Rev Neurol (Paris). 2021 Jun;177(6):699-706. doi: 10.1016/j.neurol.2020.08.010. Epub 2020 Dec 31.
Amyotrophic lateral sclerosis (ALS) is most often a sporadic disorder that affects both upper and lower motor neurons. Because the prognosis of ALS is uniformly poor compared to other motor neuron disorders, defining the diagnosis can help guide appropriate clinical management and improve quality of life for patients. However, the diagnosis of ALS is often challenging and there may be overlapping clinical features with other rare diseases. We present four patients who were referred to our center because of the clinical suspicion of ALS, in whom more detailed assessments revealed an alternative diagnosis, and we discuss the limitations of the modified-El Escorial criteria.
肌萎缩侧索硬化症（ALS）多为散发性疾病，影响上下运动神经元。与其他运动神经元疾病相比，ALS 的预后普遍较差，因此明确诊断有助于指导适当的临床管理并提高患者的生活质量。但是，ALS 的诊断常常具有挑战性，并且可能与其他罕见疾病具有重叠的临床特征。我们介绍了 4 位因疑似 ALS 而转至我院的患者，详细评估后发现了其他诊断，同时我们还讨论了改良 El Escorial 标准的局限性。
