Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
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 prev...
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| Format: | Article |
| Language: | English |
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BMC
2019-12-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-019-1227-x |
| _version_ | 1828883592790409216 |
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| author | Inmaculada Pagola-Lorz Esther Vicente Berta Ibáñez Laura Torné Itsaso Elizalde-Beiras Virginia Garcia-Solaesa Fermín García Josu Delfrade Ivonne Jericó |
| author_facet | Inmaculada Pagola-Lorz Esther Vicente Berta Ibáñez Laura Torné Itsaso Elizalde-Beiras Virginia Garcia-Solaesa Fermín García Josu Delfrade Ivonne Jericó |
| author_sort | Inmaculada Pagola-Lorz |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T10:52:14Z |
| format | Article |
| id | doaj.art-e4763bbdbbd84c6d82bf08874f347409 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-13T10:52:14Z |
| publishDate | 2019-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-e4763bbdbbd84c6d82bf08874f3474092022-12-21T23:49:47ZengBMCOrphanet Journal of Rare Diseases1750-11722019-12-0114111310.1186/s13023-019-1227-xEpidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish regionInmaculada Pagola-Lorz0Esther Vicente1Berta Ibáñez2Laura Torné3Itsaso Elizalde-Beiras4Virginia Garcia-Solaesa5Fermín García6Josu Delfrade7Ivonne Jericó8Department of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarre Institute for Health Research)Community Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNAMethodology Unit. Navarrabiomed, Universidad Pública de Navarra (UPNA), IdiSNADepartment of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarre Institute for Health Research)Primary Care, Servicio Navarro de Salud – Osasunbidea, IdiSNADepartment of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarre Institute for Health Research)Department of Genetics, Complejo Hospitalario de Navarra, IdiSNACommunity Health Observatory Section, Instituto de Salud Pública y Laboral de Navarra, IdiSNADepartment of Neurology, Complejo Hospitalario de Navarra, IdiSNA (Navarre Institute for Health Research)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.https://doi.org/10.1186/s13023-019-1227-xInherited muscle diseasesEpidemiologyPrevalenceNeuromuscular |
| spellingShingle | Inmaculada Pagola-Lorz Esther Vicente Berta Ibáñez Laura Torné Itsaso Elizalde-Beiras Virginia Garcia-Solaesa Fermín García Josu Delfrade Ivonne Jericó Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region Orphanet Journal of Rare Diseases Inherited muscle diseases Epidemiology Prevalence Neuromuscular |
| title | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| title_full | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| title_fullStr | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| title_full_unstemmed | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| title_short | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| title_sort | epidemiological study and genetic characterization of inherited muscle diseases in a northern spanish region |
| topic | Inherited muscle diseases Epidemiology Prevalence Neuromuscular |
| url | https://doi.org/10.1186/s13023-019-1227-x |
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