Diagnostic delay in amyotrophic lateral sclerosis

Detalhes bibliográficos
Autor(a) principal: Gwathmey, Kelly G.
Data de Publicação: 2023
Outros Autores: Corcia, Philippe, McDermott, Chris J., Genge, Angela, Sennfält, Stefan, Carvalho, Mamede, Ingre, Caroline
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/59914
Resumo: © 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
id RCAP_8fa640398d3659a366364ebddf2f20e5
oai_identifier_str oai:repositorio.ul.pt:10451/59914
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Diagnostic delay in amyotrophic lateral sclerosisAmyotrophic lateral sclerosisDelayed diagnosisDiagnostic errorsMotor neurone diseaseNeurodegenerative diseases© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.Background: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease, and the time from symptom onset to diagnosis remains long. With the advent of disease-modifying treatments, the need to identify and diagnose ALS in a timely fashion has never been greater. Methods: We reviewed the literature to define the severity of ALS diagnostic delay, the various factors that contribute to this delay (including patient and physician factors), and the role that site of symptom onset plays in a patient's diagnostic journey. Results: Diagnostic delay is influenced by general practitioners' lack of recognition of ALS due to disease rarity and heterogenous presentations. As a result, patients are referred to non-neurologists, have unnecessary diagnostic testing, and may ultimately be misdiagnosed. Patient factors include their illness behavior-which impacts diagnostic delay-and their site of symptom onset. Limb-onset patients have the greatest diagnostic delay because they are frequently misdiagnosed with degenerative spine disease or peripheral neuropathy. Conclusion: Prompt ALS diagnosis results in more effective clinical management, with earlier access to disease-modifying therapies, multidisciplinary care, and, if desired, clinical trial involvement. Due to lack of commercially available ALS biomarkers, alternative strategies to identify and triage patients who likely have ALS must be employed. Several diagnostic tools have been developed to encourage general practitioners to consider ALS and make an urgent referral to ALS specialists, bypassing unnecessary referrals to non-neurologists and unnecessary diagnostic workup.Research funding: CytokineticsWileyRepositório da Universidade de LisboaGwathmey, Kelly G.Corcia, PhilippeMcDermott, Chris J.Genge, AngelaSennfält, StefanCarvalho, MamedeIngre, Caroline2023-10-20T13:55:58Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/59914engEur J Neurol. 2023 Sep;30(9):2595-26011351-510110.1111/ene.158741468-1331info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:09:16Zoai:repositorio.ul.pt:10451/59914Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:09:42.922396Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Diagnostic delay in amyotrophic lateral sclerosis
title Diagnostic delay in amyotrophic lateral sclerosis
spellingShingle Diagnostic delay in amyotrophic lateral sclerosis
Gwathmey, Kelly G.
Amyotrophic lateral sclerosis
Delayed diagnosis
Diagnostic errors
Motor neurone disease
Neurodegenerative diseases
title_short Diagnostic delay in amyotrophic lateral sclerosis
title_full Diagnostic delay in amyotrophic lateral sclerosis
title_fullStr Diagnostic delay in amyotrophic lateral sclerosis
title_full_unstemmed Diagnostic delay in amyotrophic lateral sclerosis
title_sort Diagnostic delay in amyotrophic lateral sclerosis
author Gwathmey, Kelly G.
author_facet Gwathmey, Kelly G.
Corcia, Philippe
McDermott, Chris J.
Genge, Angela
Sennfält, Stefan
Carvalho, Mamede
Ingre, Caroline
author_role author
author2 Corcia, Philippe
McDermott, Chris J.
Genge, Angela
Sennfält, Stefan
Carvalho, Mamede
Ingre, Caroline
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Gwathmey, Kelly G.
Corcia, Philippe
McDermott, Chris J.
Genge, Angela
Sennfält, Stefan
Carvalho, Mamede
Ingre, Caroline
dc.subject.por.fl_str_mv Amyotrophic lateral sclerosis
Delayed diagnosis
Diagnostic errors
Motor neurone disease
Neurodegenerative diseases
topic Amyotrophic lateral sclerosis
Delayed diagnosis
Diagnostic errors
Motor neurone disease
Neurodegenerative diseases
description © 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
publishDate 2023
dc.date.none.fl_str_mv 2023-10-20T13:55:58Z
2023
2023-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/59914
url http://hdl.handle.net/10451/59914
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Eur J Neurol. 2023 Sep;30(9):2595-2601
1351-5101
10.1111/ene.15874
1468-1331
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
_version_ 1799134651855405056

Registros relacionados