Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
| dc.contributor.author | Pagola Lorz, María Inmaculada | |
| dc.contributor.author | Vicente Cemborain, Esther | |
| dc.contributor.author | Ibáñez Beroiz, Berta | |
| dc.contributor.author | Torné, Laura | |
| dc.contributor.author | Elizalde Beiras, Itsaso | |
| dc.contributor.author | García Solaesa, Virginia | |
| dc.contributor.author | González García, Fermín María | |
| dc.contributor.author | Delfrade Osinaga, J. | |
| dc.contributor.author | Jericó Pascual, Ivonne | |
| dc.contributor.department | Ciencias de la Salud | es_ES |
| dc.contributor.department | Osasun Zientziak | eu |
| dc.contributor.funder | Gobierno de Navarra / Nafarroako Gobernua | es |
| dc.date.accessioned | 2020-05-21T09:23:41Z | |
| dc.date.available | 2020-05-21T09:23:41Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | Background: Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases in a northern Spanish region and to describe their demographic and genetic features. Retrospective identification of patients with inherited muscle diseases between 2000 and 2015 from multiple data sources. Demographic and molecular data were registered. Results: On January 1, 2016, the overall prevalence of inherited muscle diseases was 59.00/ 100,000 inhabitants (CI 95%; 53.35-65.26). Prevalence was significantly greater in men (67.33/100,000) in comparison to women (50.80/100,000) (p = 0.006). The highest value was seen in the age range between 45 and 54 (91.32/100,000) years. Myotonic dystrophy type 1 was the most common condition (35.90/100,000), followed by facioscapulohumeral muscular dystrophy (5.15/100,000) and limb-girdle muscular dystrophy type 2A (2.5/100,000). Conclusions: Prevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases. | en |
| dc.description.sponsorship | This study was partially supported by the Health Department of the Navarre Government (project 007–2017), co-funded (50%) by the European Regional Development Fund (ERDF) through the Navarre ERDF 2014–2020 Operative Programme. | en |
| dc.format.extent | 13 p. | |
| dc.format.mimetype | application/pdf | en |
| dc.identifier.doi | 10.1186/s13023-019-1227-x | |
| dc.identifier.issn | 1750-1172 | |
| dc.identifier.uri | https://academica-e.unavarra.es/handle/2454/36955 | |
| dc.language.iso | eng | en |
| dc.publisher | BioMed Central | en |
| dc.relation.ispartof | Orphanet Journal of Rare Diseases, 2019, 14, 276 | en |
| dc.relation.publisherversion | https://doi.org/10.1186/s13023-019-1227-x | |
| dc.rights | © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. | en |
| dc.rights.accessRights | info:eu-repo/semantics/openAccess | |
| dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Inherited muscle diseases | en |
| dc.subject | Epidemiology | en |
| dc.subject | Prevalence | en |
| dc.subject | Neuromuscular | en |
| dc.title | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region | en |
| dc.type | info:eu-repo/semantics/article | |
| dc.type.version | info:eu-repo/semantics/publishedVersion | |
| dspace.entity.type | Publication | |
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