Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases throug...

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Authors: Scalco, Renata S., Lucía Mulas, Alejandro, Santalla Hernández, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., EUROMAC Consortium, Et al.
Format: article
Publication Date:2020
Country:España
Institution:Universidad Europea (UEM)
Repository:ABACUS. Repositorio de Producción Científica
Language:English
OAI Identifier:oai:abacus.universidadeuropea.com:11268/9664
Online Access:http://hdl.handle.net/11268/9664
Access Level:Open access
Keyword:Glucógeno
Enfermedades raras
Terapéutica
Enfermedad
Metabolismo
Tratamiento médico
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spelling Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Scalco, Renata S.Lucía Mulas, AlejandroSantalla Hernández, AlfredoMartinuzzi, AndreaVavla, MarinelaReni, GianluigiToscano, AntonioMusumeci, OlimpiaVoermans, Nicol C.EUROMAC ConsortiumEt al.GlucógenoEnfermedades rarasTerapéuticaEnfermedadMetabolismoTratamiento médicoBackground: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results: Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions: The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.20212021-01-1320202020-01-0120202020-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/11268/9664reponame:ABACUS. Repositorio de Producción Científicainstname:Universidad Europea (UEM)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:abacus.universidadeuropea.com:11268/96642026-06-11T12:41:27Z
dc.title.none.fl_str_mv Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
title Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
spellingShingle Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco, Renata S.
Glucógeno
Enfermedades raras
Terapéutica
Enfermedad
Metabolismo
Tratamiento médico
title_short Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
title_full Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
title_fullStr Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
title_full_unstemmed Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
title_sort Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
dc.creator.none.fl_str_mv Scalco, Renata S.
Lucía Mulas, Alejandro
Santalla Hernández, Alfredo
Martinuzzi, Andrea
Vavla, Marinela
Reni, Gianluigi
Toscano, Antonio
Musumeci, Olimpia
Voermans, Nicol C.
EUROMAC Consortium
Et al.
author Scalco, Renata S.
author_facet Scalco, Renata S.
Lucía Mulas, Alejandro
Santalla Hernández, Alfredo
Martinuzzi, Andrea
Vavla, Marinela
Reni, Gianluigi
Toscano, Antonio
Musumeci, Olimpia
Voermans, Nicol C.
EUROMAC Consortium
Et al.
author_role author
author2 Lucía Mulas, Alejandro
Santalla Hernández, Alfredo
Martinuzzi, Andrea
Vavla, Marinela
Reni, Gianluigi
Toscano, Antonio
Musumeci, Olimpia
Voermans, Nicol C.
EUROMAC Consortium
Et al.
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Glucógeno
Enfermedades raras
Terapéutica
Enfermedad
Metabolismo
Tratamiento médico
topic Glucógeno
Enfermedades raras
Terapéutica
Enfermedad
Metabolismo
Tratamiento médico
description Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results: Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions: The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01
2020
2020-01-01
2021
2021-01-13
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/11268/9664
url http://hdl.handle.net/11268/9664
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:ABACUS. Repositorio de Producción Científica
instname:Universidad Europea (UEM)
instname_str Universidad Europea (UEM)
reponame_str ABACUS. Repositorio de Producción Científica
collection ABACUS. Repositorio de Producción Científica
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.301629

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