Recomendações para o diagnóstico da forma tardia da doença de pompe
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , |
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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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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info:eu-repo/semantics/openAccess |
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openAccess |
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5 application/pdf |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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