Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme aci...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2015-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005011103&lng=en&tlng=en |
| _version_ | 1818546405498683392 |
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| author | Juan Clinton Llerena Junior Osvaldo JM Nascimento Acary Souza B Oliveira Mario Emilio T Dourado Junior Carlo D Marrone Heloise Helena Siqueira Cláudia F R Sobreira Elza Dias-Tosta Lineu Cesar Werneck |
| author_facet | Juan Clinton Llerena Junior Osvaldo JM Nascimento Acary Souza B Oliveira Mario Emilio T Dourado Junior Carlo D Marrone Heloise Helena Siqueira Cláudia F R Sobreira Elza Dias-Tosta Lineu Cesar Werneck |
| author_sort | Juan Clinton Llerena Junior |
| collection | DOAJ |
| description | ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views. |
| first_indexed | 2024-12-12T07:52:46Z |
| format | Article |
| id | doaj.art-b05959189a28442e9799903a1f8264e6 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-12T07:52:46Z |
| publishDate | 2015-01-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-b05959189a28442e9799903a1f8264e62022-12-22T00:32:24ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272015-01-01010.1590/0004-282X20150194S0004-282X2015005011103Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe diseaseJuan Clinton Llerena JuniorOsvaldo JM NascimentoAcary Souza B OliveiraMario Emilio T Dourado JuniorCarlo D MarroneHeloise Helena SiqueiraCláudia F R SobreiraElza Dias-TostaLineu Cesar WerneckABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005011103&lng=en&tlng=endoença de Pompe, doença de depósito de glicogênio tipo IIalfa-glicosidade ácidadebilidade musculardispneiagene GAAGAA recombinante humana |
| spellingShingle | Juan Clinton Llerena Junior Osvaldo JM Nascimento Acary Souza B Oliveira Mario Emilio T Dourado Junior Carlo D Marrone Heloise Helena Siqueira Cláudia F R Sobreira Elza Dias-Tosta Lineu Cesar Werneck Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease Arquivos de Neuro-Psiquiatria doença de Pompe, doença de depósito de glicogênio tipo II alfa-glicosidade ácida debilidade muscular dispneia gene GAA GAA recombinante humana |
| title | Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
| title_full | Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
| title_fullStr | Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
| title_full_unstemmed | Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
| title_short | Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
| title_sort | guidelines for the diagnosis treatment and clinical monitoring of patients with juvenile and adult pompe disease |
| topic | doença de Pompe, doença de depósito de glicogênio tipo II alfa-glicosidade ácida debilidade muscular dispneia gene GAA GAA recombinante humana |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015005011103&lng=en&tlng=en |
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