Goutman Stephen A, Hardiman Orla, Al-Chalabi Ammar, Chió Adriano, Savelieff Masha G, Kiernan Matthew C, Feldman Eva L
Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
Lancet Neurol. 2022 May;21(5):480-493. doi: 10.1016/S1474-4422(21)00465-8. Epub 2022 Mar 22.
The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in clinical presentation and overlap with other neurological disorders. Diagnosis early in the disease course can improve outcomes as timely interventions can slow disease progression. An evolving awareness of disease genotypes and phenotypes and new diagnostic criteria, such as the recent Gold Coast criteria, could expedite diagnosis. Improved prognosis, such as that achieved with the survival model from the European Network for the Cure of ALS, could inform the patient and their family about disease course and improve end-of-life planning. Novel staging and scoring systems can help monitor disease progression and might potentially serve as clinical trial outcomes. Lastly, new tools, such as fluid biomarkers, imaging modalities, and neuromuscular electrophysiological measurements, might increase diagnostic and prognostic accuracy.
肌萎缩侧索硬化症的诊断具有挑战性，因为其临床表现存在异质性，且与其他神经系统疾病有重叠。在疾病进程早期进行诊断可以改善预后，因为及时干预可以减缓疾病进展。对疾病基因型和表型的认识不断发展以及新的诊断标准，如最近的黄金海岸标准，可能会加快诊断速度。改善预后，如欧洲肌萎缩侧索硬化症治疗网络的生存模型所取得的成果，可以让患者及其家属了解疾病进程，并改善临终规划。新的分期和评分系统有助于监测疾病进展，并有可能作为临床试验结果。最后，新的工具，如液体生物标志物、成像方式和神经肌肉电生理测量，可能会提高诊断和预后的准确性。
