Recent advances in the diagnosis and prognosis of ALS

Diagnosing ALS can be challenging due to heterogeneity in clinical presentation and overlap with other neurological and neuropsychological conditions. Earlier diagnosis can improve ALS patient outcomes as timely interventions slow disease progression. An evolving awareness of ALS genotypes and phenotypes and new ALS criteria, such as the recent Gold Coast criteria, could expedite diagnosis. Improved prognosis, such as the ENCALS survival model, could inform the patient and their family about disease course and improve end of life planning. Novel staging and scoring systems can help monitor ALS patients’ disease progression and may potentially serve as clinical trial outcomes. Lastly, new tools like biofluid markers, imaging modalities, and neuromuscular electrophysiological measurements may increase diagnostic and prognostic accuracy. We hope that improved diagnostic tools for ALS will shorten time to diagnosis, leading to earlier treatment and potentially better outcomes, whereas improved prognostic tools will help ALS patients understand their likely disease course.