Data from the European registry for patients with McArdle disease (EUROMAC)
The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty colla...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:307984 |
| Acceso en línea: | https://ddd.uab.cat/record/307984 https://dx.doi.org/urn:doi:10.1186/s13023-023-02825-z |
| Access Level: | acceso abierto |
| Palabra clave: | McArdle disease Glycogen storage disease V Rare diseases International registry Health care |
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Data from the European registry for patients with McArdle disease (EUROMAC)functional status and social participationKarazi, WalaaScalco, Renata S.Stemmerik, Mads G.Løkken, NicolineLucia, Alejandro|||0000-0002-3025-2060Santalla, Alfredo|||0000-0001-9418-0564Martinuzzi, AndreaVavla, MarinelaReni, GianluigiToscano, AntonioMusumeci, Olimpia|||0000-0002-9208-1527Kouwenberg, Carlyn V.Laforêt, PascalMillán, Beatriz SanVieitez, IreneSiciliano, GabrieleKühnle, EnricoTrost, RebeccaSacconi, SabrinaDurmus, HacerKierdaszuk, BirutaWakelin, AndrewAndreu Périz, Antoni LluísPinós Figueras, Tomàs|||0000-0002-4379-0917Martí, Ramon A.|||0000-0002-8273-9540Quinlivan, RosVissing, John|||0000-0001-6144-8544Voermans, Nicol C.|||0000-0002-5837-7295McArdle diseaseGlycogen storage disease VRare diseasesInternational registryHealth careThe European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ). Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted. The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain. 22023-01-0120232023-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/307984https://dx.doi.org/urn:doi:10.1186/s13023-023-02825-zreponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen 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:3079842026-06-06T12:50:31Z |
| dc.title.none.fl_str_mv |
Data from the European registry for patients with McArdle disease (EUROMAC) functional status and social participation |
| title |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| spellingShingle |
Data from the European registry for patients with McArdle disease (EUROMAC) Karazi, Walaa McArdle disease Glycogen storage disease V Rare diseases International registry Health care |
| title_short |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| title_full |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| title_fullStr |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| title_full_unstemmed |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| title_sort |
Data from the European registry for patients with McArdle disease (EUROMAC) |
| dc.creator.none.fl_str_mv |
Karazi, Walaa Scalco, Renata S. Stemmerik, Mads G. Løkken, Nicoline 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 Kouwenberg, Carlyn V. Laforêt, Pascal Millán, Beatriz San Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebecca Sacconi, Sabrina 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 Voermans, Nicol C.|||0000-0002-5837-7295 |
| author |
Karazi, Walaa |
| author_facet |
Karazi, Walaa Scalco, Renata S. Stemmerik, Mads G. Løkken, Nicoline 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 Kouwenberg, Carlyn V. Laforêt, Pascal Millán, Beatriz San Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebecca Sacconi, Sabrina 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 Voermans, Nicol C.|||0000-0002-5837-7295 |
| author_role |
author |
| author2 |
Scalco, Renata S. Stemmerik, Mads G. Løkken, Nicoline 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 Kouwenberg, Carlyn V. Laforêt, Pascal Millán, Beatriz San Vieitez, Irene Siciliano, Gabriele Kühnle, Enrico Trost, Rebecca Sacconi, Sabrina 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 Voermans, Nicol C.|||0000-0002-5837-7295 |
| 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 author author |
| dc.subject.none.fl_str_mv |
McArdle disease Glycogen storage disease V Rare diseases International registry Health care |
| topic |
McArdle disease Glycogen storage disease V Rare diseases International registry Health care |
| description |
The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases. A network of twenty collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. Following the initial report on demographics, neuromuscular features and comorbidity (2020), we here present the data on social participation, previous and current treatments (medication, supplements, diet and rehabilitation) and limitations. Furthermore, the following questionnaires were used: Fatigue severity scale (FSS), WHO Disability Assessment Scale (DAS 2.0), health related quality of life (SF36) and International Physical Activity Questionnaire (IPAQ). Of 282 participants with confirmed diagnoses of muscle glycogenosis, 269 had GSD5. Of them 196 (73%) completed all questionnaires; for the others, the data were incomplete. The majority, 180 (67%) were currently working. Previous medical treatments included pain medication (23%) and rehabilitation treatment (60%). The carbohydrate-rich diet was reported to be beneficial for 68%, the low sucrose diet for 76% and the ketogenic diet for 88%. Almost all participants (93%) reported difficulties climbing stairs. The median FSS score was 5.22, indicating severe fatigue. The data from the WHODAS and IPAQ was not of sufficient quality to be interpreted. The EUROMAC registry have provided insight into the functional and social status of participants with GSD5: most participants are socially active despite limitations in physical and daily life activities. Regular physical activity and different dietary approaches may alleviate fatigue and pain. |
| publishDate |
2023 |
| dc.date.none.fl_str_mv |
2 2023-01-01 2023 2023-01-01 |
| 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 |
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https://ddd.uab.cat/record/307984 https://dx.doi.org/urn:doi:10.1186/s13023-023-02825-z |
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https://ddd.uab.cat/record/307984 https://dx.doi.org/urn:doi:10.1186/s13023-023-02825-z |
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Inglés eng |
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Inglés |
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eng |
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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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