Publication
Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe
| dc.contributor.author | Brito-Avô, L. | |
| dc.contributor.author | Alves, J. | |
| dc.contributor.author | Costa, J. | |
| dc.contributor.author | Valverde, A. | |
| dc.contributor.author | Santos, L. | |
| dc.contributor.author | Araújo, F. | |
| dc.contributor.author | Marinho, A. | |
| dc.contributor.author | Oliveira, A. | |
| dc.contributor.author | Gomes, D. | |
| dc.date.accessioned | 2015-05-04T11:50:35Z | |
| dc.date.available | 2015-05-04T11:50:35Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | 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. | por |
| dc.description.sponsorship | Este trabalho foi realizado com o apoio financeiro da Sanofi - Produtos Farmacêuticos, Lda. e não foi condicional à obtenção de nenhum tipo específico de resultados. | por |
| dc.identifier.citation | Acta Med Port 2014 Jul-Aug;27(4):525-529 | por |
| dc.identifier.issn | 0870-399X | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/1778 | |
| dc.language.iso | por | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Centro Editor Livreiro da Ordem dos Médicos | por |
| dc.relation.publisherversion | http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/5275/4024 | por |
| dc.subject | Idade de Início | por |
| dc.subject | Consenso | por |
| dc.subject | Doença de Armazenamento de Glicogénio tipo II | por |
| dc.title | Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe | por |
| dc.title.alternative | Diagnosis Recommendations for Late-onset Pompe Disease | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Portugal | por |
| oaire.citation.endPage | 529 | por |
| oaire.citation.startPage | 525 | por |
| oaire.citation.title | Acta Médica Portuguesa | por |
| oaire.citation.volume | 27(4) | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |