National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Department of Neurology, Tufts Medical Center, Tuft University School of Medicine, Boston, Massachusetts, USA.
Muscle Nerve. 2022 Sep;66(3):240-252. doi: 10.1002/mus.27567. Epub 2022 May 24.
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disorder characterized by progressive degeneration of cortical, bulbar, and spinal motor neurons. When a patient presents with a progressive upper and/or lower motor syndrome, clinicians must pay particular attention to any atypical features in the history and/or clinical examination suggesting an alternate diagnosis, as up to 10% percent of patients initially diagnosed with ALS have a mimic of ALS. ALS is a clinical diagnosis and requires the exclusion of other disorders that may have similar presentations but a more favorable prognosis or an effective therapy. Because there is currently no specific diagnostic biomarker that is sensitive or specific for ALS, understanding the spectrum of clinical presentations of ALS and its mimics is paramount. While true mimics of ALS are rare, the clinician must correctly identify these disorders to avoid the misdiagnosis of ALS and to initiate effective treatment where available.
肌萎缩侧索硬化症(ALS)是最常见的成人发病运动神经元疾病,其特征是皮质、延髓和脊髓运动神经元进行性退化。当患者出现进行性上下运动综合征时,临床医生必须特别注意病史和/或临床检查中任何不典型特征,这些特征提示可能存在其他诊断,因为高达 10%的最初被诊断为 ALS 的患者存在 ALS 模拟病。ALS 是一种临床诊断,需要排除可能具有类似表现但预后较好或治疗有效的其他疾病。由于目前尚无对 ALS 敏感或特异的特定诊断生物标志物,因此了解 ALS 的临床表现谱及其模拟病至关重要。虽然真正的 ALS 模拟病很少见,但临床医生必须正确识别这些疾病,以避免误诊 ALS,并在有条件的情况下开始有效的治疗。