Lancet Neurol

Abstract

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.R01TS000289/ACL/ACL HHSUnited States/R01 TS000327/TS/ATSDR CDC HHSUnited States/K23 ES027221/ES/NIEHS NIH HHSUnited States/MR/L501529/1/MRC_/Medical Research CouncilUnited Kingdom/ALCHALABI-TALBOT/APR14/926-794/MNDA_/Motor Neurone Disease AssociationUnited Kingdom/R01 ES030049/ES/NIEHS NIH HHSUnited States/ALCHALABI-DOBSON/APR14/829-791/MNDA_/Motor Neurone Disease AssociationUnited Kingdom/R01 NS120926/NS/NINDS NIH HHSUnited States/R01 NS127188/NS/NINDS NIH HHSUnited States/MR/R024804/1/MRC_/Medical Research CouncilUnited Kingdom/R01 TS000289/TS/ATSDR CDC HHSUnited States