Neurol. praxi. 2025;26(3):217-224 | DOI: 10.36290/neu.2024.069

Amyotrophic lateral sclerosis: new guidelines on diagnostics and management

doc. MUDr. Eva Vlčková, Ph.D., MUDr. Adam Betík
Neurologická klinika Lékařské fakulty Masarykovy univerzity a Fakultní nemocnice Brno, Neuromuskulární centrum ERN, Brno

Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressive neurodegenerative disease that primarily affects motor neurons in the brain and/or spinal cord. In recent years, a number of new recommendations have been published regarding the diagnosis of ALS, including the approach to genetic testing of these patients, as well as the therapy or general comprehensive management of this disease and its complications and comorbidities. The aim of this article is to summarize these recommendations and the most important current knowledge about this very serious disease.

Keywords: amyotrophic lateral sclerosis, motor neuron disease, genetic testing, frontotemporal dementia, electromyography, gastrostomy, noninvasive ventilation, living will.

Received: October 29, 2024; Revised: October 29, 2024; Accepted: October 29, 2024; Prepublished online: October 29, 2024; Published: July 4, 2025  Show citation

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Vlčková E, Betík A. Amyotrophic lateral sclerosis: new guidelines on diagnostics and management. Neurol. praxi. 2025;26(3):217-224. doi: 10.36290/neu.2024.069.
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    References

    1. . Abrahams S. Neuropsychological impairment in amyotrophic lateral sclerosis-frontotemporal spectrum disorder. Nat Rev Neurol. 2023;19(11):655-667. doi: 10.1038/s41582-023-00878-z. Go to original source... Go to PubMed...
    2. . Abrahams S, Newton J, Niven E, et al. Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2014;15(1-2):9-14. doi: 10.3109/21678421.2013.805784. Go to original source... Go to PubMed...
    3. . Amylyx Pharmaceuticals Announces FDA Approval of RELYVRIO™ for the Treatment of ALS. Amylyx 2024 [Internet 7. 8. 2024]. Available from: https://www.amylyx.com/news/amylyx-pharmaceuticals-announces-fda-approval-of-relyvriotm-for-the-treatment-of-als.
    4. . Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial 'Clinical limits of amyotrophic lateral sclerosis' workshop contributors. J Neurol Sci. 1994;124(Suppl):96-107. Go to original source... Go to PubMed...
    5. . Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:293-299. doi: 10.1080/146608200300079536. Go to original source... Go to PubMed...
    6. . de Carvalho M, Dengler R, Eisen A, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008;119(3):497-503. doi: 10.1016/j.clinph.2007.09.143. Go to original source... Go to PubMed...
    7. . Evropská léková agentura (EMA): Souhrn údajů o přípravku Rilutek. EMA 2024 [Internet 10. 8. 2024]. Available from: https://www.ema.europa.eu/cs/documents/product-information/rilutek-epar-product-information_cs.pdf.
    8. . Ferrer reports top-line results from Phase III ADORE study in ALS. Ferrer 2024 [Internet 7. 8. 2024]. Available from: https://www.ferrer.com/en/results-study-ADORE-ALS.
    9. . Goodbye: Seznam hospiců v ČR [Internet 29. 10. 2024]. Available from: https://goodbye.cz/seznam-hospicu/.
    10. . Goutman SA, Hardiman O, Al-Chalabi A, et al. Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis. Lancet Neurol. 2022;21(5):465-479. doi: 10.1016/S1474-4422(21)00414-2. Go to original source... Go to PubMed...
    11. . Goutman SA, Hardiman O, Al-Chalabi A, et al. Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis. Lancet Neurol. 2022a;21(5):480-493. doi: 10.1016/S1474-4422(21)00465-8. Go to original source... Go to PubMed...
    12. . Guyatt GH, Oxman AD, Vist GE, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ. 2008 Apr 26;336(7650):924-6. doi: 10.1136/bmj.39489.470347.AD. Go to original source... Go to PubMed...
    13. . Hannaford A, Pavey N, van den Bos M, et al. Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis. Ann Neurol. 2021;89(5):979-986. doi: 10.1002/ana.26045. Go to original source... Go to PubMed...
    14. . Moher D, Shamseer L, Clarke M, et al. Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015 statement. Syst Rev. 2015;4(1):1. doi: 10.1186/2046-4053-4-1. Go to original source... Go to PubMed...
    15. . Neuromuskulární sekce: Seznam center. [Internet 29. 10. 2024]. Available from: https://www.neuromuskularni-sekce.cz/index.php?pg=rady-nemocnym--seznam-center
    16. . NICE Guideline: Motor neurone disease: assessment and management. National Institute for Health and Care Excellence 2019 [Internet 7. 8. 2024]. Available from: https://www.nice.org.uk/guidance/NG42.
    17. . Pender N, Pinto-Grau M, Hardiman O. Cognitive and behavioural impairment in amyotrophic lateral sclerosis. Curr Opin Neurol. 2020;33(5):649-654. doi: 10.1097/WCO.0000000000000862. Go to original source... Go to PubMed...
    18. . Richards D, Morren JA, Pioro EP. Time to diagnosis and factors affecting diagnostic delay in amyotrophic lateral sclerosis. J Neurol Sci. 2020;417:117054. doi: 10.1016/j.jns.2020.117054. Go to original source... Go to PubMed...
    19. . Roche JC, Rojas-Garcia R, Scott KM, et al. A proposed staging system for amyotrophic lateral sclerosis. Brain. 2012;135(Pt 3):847-52. doi: 10.1093/brain/awr351. Go to original source... Go to PubMed...
    20. . Roggenbuck J, Eubank BHF, Wright J, et al. Evidence-based consensus guidelines for ALS genetic testing and counseling. Ann Clin Transl Neurol. 2023;10(11):2074-2091. doi: 10.1002/acn3.51895. Go to original source... Go to PubMed...
    21. . Shefner JM, Al-Chalabi A, Baker MR, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020;131(8):1975-1978. doi: 10.1016/j.clinph.2020.04.005. Začátek formuláře. Go to original source...
    22. . Státní ústav pro kontrolu léčiv: Přehled léčiv: Detail varianty léčivého přípravku RILUTEK (0027286 - 50MG TBL FLM 56: Ceny a úhrady. SUKL 2024 [Internet 10. 8. 2024]. Available from: https://prehledy.sukl.cz/prehled_leciv.html#/leciva/0027286.
    23. . Strong MJ, Abrahams S, Goldstein LH, et al. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener. 2017;18(3-4):153-174. doi: 10.1080/21678421.2016.1267768. Go to original source... Go to PubMed...
    24. . Teutsch SM, Bradley LA, Palomaki GE, et al. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med. 2009;11(1):3-14. doi: 10.1097/GIM.0b013e318184137c. Go to original source... Go to PubMed...
    25. . Timmins HC, Thompson AE, Kiernan MC. Diagnostic criteria for amyotrophic lateral sclerosis. Curr Opin Neurol. 2024. doi: 10.1097/WCO.0000000000001302. Epub ahead of print. Go to original source... Go to PubMed...
    26. . Van Damme P, Al-Chalabi A, Andersen PM, et al. European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD). Eur J Neurol. 2024;31(6):e16264. doi: 10.1111/ene.16264. Go to original source... Go to PubMed...
    27. . Vucic S, Ferguson TA, Cummings C, et al. Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment. Muscle Nerve. 2021;64(5):532-537. doi: 10.1002/mus.27392. Go to original source... Go to PubMed...
    28. . Westeneng HJ, Debray TPA, Visser AE, et al. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurol. 2018;17(5):423-433. doi: 10.1016/S1474-4422(18)30089-9. Konec formuláře Go to original source... Go to PubMed...
    29. . Xu L, Liu T, Liu L, et al. Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol. 2020;267(4):944-953. doi: 10.1007/s00415-019-09652-y. Go to original source... Go to PubMed...

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