Recomendações para o diagnóstico da forma tardia da doença de pompe

Detalhes bibliográficos
Autor(a) principal: Brito-Avô, Luis
Data de Publicação: 2014
Outros Autores: Alves, José Delgado, Costa, João Matos, Valverde, Ana, Santos, Lélita, Araújo, Francisco, Aguiar, Patrício, Marinho, António, Oliveira, Anabela, Gomes, Daniel
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/145290
Resumo: Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. Material and Methods: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. Recommendations: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.
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spelling Recomendações para o diagnóstico da forma tardia da doença de pompeDiagnosis recommendations for late-onset pompe diseaseAge of onsetConsensusGlycogen storage disease type IIMedicine(all)Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. Material and Methods: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. Recommendations: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.Centro de Estudos de Doenças Crónicas (CEDOC)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNBrito-Avô, LuisAlves, José DelgadoCosta, João MatosValverde, AnaSantos, LélitaAraújo, FranciscoAguiar, PatrícioMarinho, AntónioOliveira, AnabelaGomes, Daniel2022-11-07T22:11:09Z20142014-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article5application/pdfhttp://hdl.handle.net/10362/145290por0870-399XPURE: 47611421https://doi.org/10.20344/amp.5275info: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:RCAAP2024-03-11T05:25:29Zoai:run.unl.pt:10362/145290Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:51:59.652126Repositório 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 Recomendações para o diagnóstico da forma tardia da doença de pompe
Diagnosis recommendations for late-onset pompe disease
title Recomendações para o diagnóstico da forma tardia da doença de pompe
spellingShingle Recomendações para o diagnóstico da forma tardia da doença de pompe
Brito-Avô, Luis
Age of onset
Consensus
Glycogen storage disease type II
Medicine(all)
title_short Recomendações para o diagnóstico da forma tardia da doença de pompe
title_full Recomendações para o diagnóstico da forma tardia da doença de pompe
title_fullStr Recomendações para o diagnóstico da forma tardia da doença de pompe
title_full_unstemmed Recomendações para o diagnóstico da forma tardia da doença de pompe
title_sort Recomendações para o diagnóstico da forma tardia da doença de pompe
author Brito-Avô, Luis
author_facet Brito-Avô, Luis
Alves, José Delgado
Costa, João Matos
Valverde, Ana
Santos, Lélita
Araújo, Francisco
Aguiar, Patrício
Marinho, António
Oliveira, Anabela
Gomes, Daniel
author_role author
author2 Alves, José Delgado
Costa, João Matos
Valverde, Ana
Santos, Lélita
Araújo, Francisco
Aguiar, Patrício
Marinho, António
Oliveira, Anabela
Gomes, Daniel
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Centro de Estudos de Doenças Crónicas (CEDOC)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Brito-Avô, Luis
Alves, José Delgado
Costa, João Matos
Valverde, Ana
Santos, Lélita
Araújo, Francisco
Aguiar, Patrício
Marinho, António
Oliveira, Anabela
Gomes, Daniel
dc.subject.por.fl_str_mv Age of onset
Consensus
Glycogen storage disease type II
Medicine(all)
topic Age of onset
Consensus
Glycogen storage disease type II
Medicine(all)
description Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. Material and Methods: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. Recommendations: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.
publishDate 2014
dc.date.none.fl_str_mv 2014
2014-01-01T00:00:00Z
2022-11-07T22:11:09Z
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/10362/145290
url http://hdl.handle.net/10362/145290
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv 0870-399X
PURE: 47611421
https://doi.org/10.20344/amp.5275
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eu_rights_str_mv openAccess
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dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
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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
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