Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
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...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2020 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:253126 |
| Acceso en línea: | https://ddd.uab.cat/record/253126 https://dx.doi.org/urn:doi:10.1186/s13023-020-01562-x |
| Access Level: | acceso abierto |
| Palabra clave: | Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)Scalco, Renata S.Lucia, Alejandro|||0000-0002-3025-2060Santalla, Alfredo|||0000-0001-9418-0564Martinuzzi, AndreaVavla, MarinelaReni, GianluigiToscano, AntonioMusumeci, Olimpia|||0000-0002-9208-1527Voermans, Nicol C.|||0000-0002-5837-7295Kouwenberg, Carlyn V.Laforêt, PascalSan-Millán, BeatrizVieitez, IreneSiciliano, GabrieleKühnle, EnricoTrost, RebecaSacconi, SabrinaStemmerik, Mads G.Durmus, HacerKierdaszuk, BirutaWakelin, AndrewAndreu Périz, Antoni LluísPinós Figueras, Tomàs|||0000-0002-4379-0917Martí, Ramon A.|||0000-0002-8273-9540Quinlivan, RosVissing, John|||0000-0001-6144-8544MyopathyRare diseasesInternational registryMcArdle diseaseMetabolic diseasesGlycogen storage diseaseThe 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. 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). 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.Universitat Autònoma de Barcelona 22020-01-0120202020-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/253126https://dx.doi.org/urn:doi:10.1186/s13023-020-01562-xreponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16/01492Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01313open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2531262026-06-06T12:50:31Z |
| 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. Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
| 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. Lucia, Alejandro|||0000-0002-3025-2060 Santalla, Alfredo|||0000-0001-9418-0564 Martinuzzi, Andrea Vavla, Marinela Reni, Gianluigi Toscano, Antonio Musumeci, Olimpia|||0000-0002-9208-1527 Voermans, Nicol C.|||0000-0002-5837-7295 Kouwenberg, Carlyn V. Laforêt, Pascal San-Millán, Beatriz Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebeca Sacconi, Sabrina Stemmerik, Mads G. Durmus, Hacer Kierdaszuk, Biruta Wakelin, Andrew Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Martí, Ramon A.|||0000-0002-8273-9540 Quinlivan, Ros Vissing, John|||0000-0001-6144-8544 |
| author |
Scalco, Renata S. |
| author_facet |
Scalco, Renata S. Lucia, Alejandro|||0000-0002-3025-2060 Santalla, Alfredo|||0000-0001-9418-0564 Martinuzzi, Andrea Vavla, Marinela Reni, Gianluigi Toscano, Antonio Musumeci, Olimpia|||0000-0002-9208-1527 Voermans, Nicol C.|||0000-0002-5837-7295 Kouwenberg, Carlyn V. Laforêt, Pascal San-Millán, Beatriz Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebeca Sacconi, Sabrina Stemmerik, Mads G. Durmus, Hacer Kierdaszuk, Biruta Wakelin, Andrew Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Martí, Ramon A.|||0000-0002-8273-9540 Quinlivan, Ros Vissing, John|||0000-0001-6144-8544 |
| author_role |
author |
| author2 |
Lucia, Alejandro|||0000-0002-3025-2060 Santalla, Alfredo|||0000-0001-9418-0564 Martinuzzi, Andrea Vavla, Marinela Reni, Gianluigi Toscano, Antonio Musumeci, Olimpia|||0000-0002-9208-1527 Voermans, Nicol C.|||0000-0002-5837-7295 Kouwenberg, Carlyn V. Laforêt, Pascal San-Millán, Beatriz Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebeca Sacconi, Sabrina Stemmerik, Mads G. Durmus, Hacer Kierdaszuk, Biruta Wakelin, Andrew Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Martí, Ramon A.|||0000-0002-8273-9540 Quinlivan, Ros Vissing, John|||0000-0001-6144-8544 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| dc.subject.none.fl_str_mv |
Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
| topic |
Myopathy Rare diseases International registry McArdle disease Metabolic diseases Glycogen storage disease |
| description |
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. 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). 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 |
2 2020-01-01 2020 2020-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
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article |
| dc.identifier.none.fl_str_mv |
https://ddd.uab.cat/record/253126 https://dx.doi.org/urn:doi:10.1186/s13023-020-01562-x |
| url |
https://ddd.uab.cat/record/253126 https://dx.doi.org/urn:doi:10.1186/s13023-020-01562-x |
| dc.language.none.fl_str_mv |
Inglés eng |
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Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16/01492 Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI19/01313 |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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