Genotypic and phenotypic features of all Spanish patients with McArdle disease
We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is...
| Autores: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | artículo |
| Fecha de publicación: | 2017 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:254036 |
| Acesso em linha: | https://ddd.uab.cat/record/254036 https://dx.doi.org/urn:doi:10.1186/s12864-017-4188-2 |
| Access Level: | acceso abierto |
| Palavra-chave: | McArdle disease Spanish patients Genotype Phenotype Glycogenosis type V |
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| dc.title.none.fl_str_mv |
Genotypic and phenotypic features of all Spanish patients with McArdle disease a 2016 update |
| title |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| spellingShingle |
Genotypic and phenotypic features of all Spanish patients with McArdle disease Santalla, Alfredo|||0000-0001-9418-0564 McArdle disease Spanish patients Genotype Phenotype Glycogenosis type V |
| title_short |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| title_full |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| title_fullStr |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| title_full_unstemmed |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| title_sort |
Genotypic and phenotypic features of all Spanish patients with McArdle disease |
| dc.creator.none.fl_str_mv |
Santalla, Alfredo|||0000-0001-9418-0564 Nogales, Gisela|||0000-0002-7414-212X Encinar, Alberto Blazquez Vieitez, Irene González-Quintana, Adrian Serrano-Lorenzo, Pablo|||0000-0002-5661-7574 Consuegra-García, Inés Asensio-Peña, Sara|||0000-0002-2048-5899 Ballester-Lopez, Alfonsina|||0000-0002-8922-1664 Pintos-Morell, Guillem|||0000-0002-9347-2386 Coll-Cantí, Jaume|||0000-0001-7128-1186 Pareja-Galeano, Helios Díez-Bermejo, Jorge Pérez Ruiz, Margarita|||0000-0001-7240-2082 Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Arenas, Joaquín|||0000-0002-2877-5049 Martín, Miguel A.|||0000-0003-4741-772X Lucia, Alejandro|||0000-0002-3025-2060 |
| author |
Santalla, Alfredo|||0000-0001-9418-0564 |
| author_facet |
Santalla, Alfredo|||0000-0001-9418-0564 Nogales, Gisela|||0000-0002-7414-212X Encinar, Alberto Blazquez Vieitez, Irene González-Quintana, Adrian Serrano-Lorenzo, Pablo|||0000-0002-5661-7574 Consuegra-García, Inés Asensio-Peña, Sara|||0000-0002-2048-5899 Ballester-Lopez, Alfonsina|||0000-0002-8922-1664 Pintos-Morell, Guillem|||0000-0002-9347-2386 Coll-Cantí, Jaume|||0000-0001-7128-1186 Pareja-Galeano, Helios Díez-Bermejo, Jorge Pérez Ruiz, Margarita|||0000-0001-7240-2082 Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Arenas, Joaquín|||0000-0002-2877-5049 Martín, Miguel A.|||0000-0003-4741-772X Lucia, Alejandro|||0000-0002-3025-2060 |
| author_role |
author |
| author2 |
Nogales, Gisela|||0000-0002-7414-212X Encinar, Alberto Blazquez Vieitez, Irene González-Quintana, Adrian Serrano-Lorenzo, Pablo|||0000-0002-5661-7574 Consuegra-García, Inés Asensio-Peña, Sara|||0000-0002-2048-5899 Ballester-Lopez, Alfonsina|||0000-0002-8922-1664 Pintos-Morell, Guillem|||0000-0002-9347-2386 Coll-Cantí, Jaume|||0000-0001-7128-1186 Pareja-Galeano, Helios Díez-Bermejo, Jorge Pérez Ruiz, Margarita|||0000-0001-7240-2082 Andreu Périz, Antoni Lluís Pinós Figueras, Tomàs|||0000-0002-4379-0917 Arenas, Joaquín|||0000-0002-2877-5049 Martín, Miguel A.|||0000-0003-4741-772X Lucia, Alejandro|||0000-0002-3025-2060 |
| author2_role |
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 Spanish patients Genotype Phenotype Glycogenosis type V |
| topic |
McArdle disease Spanish patients Genotype Phenotype Glycogenosis type V |
| description |
We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Ninety-four new patients (all Caucasian) have been diagnosed, yielding a prevalence of ~1/139,543 individuals. Around 55% of the mutated alleles have the commonest PYGM pathogenic mutation p.R50X, whereas p.W798R and p.G205S account for 10 and 9% of the allelic variants, respectively. Seven new mutations were identified: p.H35R, p.R70C, p.R94Q, p.L132WfsX163, p.Q176P, p.R576Q, and c.244-3_244-2CA. Almost all patients show exercise intolerance, the second wind phenomenon and high serum creatine kinase activity. There is, however, heterogeneity in clinical severity, with 8% of patients being asymptomatic during normal daily life, and 21% showing limitations during daily activities and fixed muscle weakness. A major remaining challenge is one of diagnosis, which is often delayed until the third decade of life in 72% of new patients despite the vast majority (86%) reporting symptoms before 20 years. An important development is the growing proportion of those reporting a 4-year improvement in disease severity (now 34%) and following an active lifestyle (50%). Physically active patients are more likely to report an improvement after a 4-year period in the clinical course of the disease than their inactive peers (odds ratio: 13.98; 95% confidence interval: 5.6, 34.9; p < 0.001). Peak oxygen uptake is also higher in the former (20.7 ± 6.0 vs. 16.8 ± 5.3 mL/kg/min, p = 0.0013). Finally, there is no association between PYGM genotype and phenotype manifestation of the disease. The reported prevalence of McArdle disease grows exponentially despite frequent, long delays in genetic diagnosis, suggesting that many patients remain undiagnosed. Until a genetic cure is available (which is not predicted in the near future), current epidemiologic data support that adoption of an active lifestyle is the best medicine for these patients. |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2 2017-01-01 2017 2017-01-01 |
| 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/254036 https://dx.doi.org/urn:doi:10.1186/s12864-017-4188-2 |
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https://ddd.uab.cat/record/254036 https://dx.doi.org/urn:doi:10.1186/s12864-017-4188-2 |
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Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.relation.none.fl_str_mv |
Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/00558 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI12/00914 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16/01492 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI13/00855 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/00903 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/01756 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/00431 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 CD14/00032 |
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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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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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Dipòsit Digital de Documents de la UAB |
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Genotypic and phenotypic features of all Spanish patients with McArdle diseasea 2016 updateSantalla, Alfredo|||0000-0001-9418-0564Nogales, Gisela|||0000-0002-7414-212XEncinar, Alberto BlazquezVieitez, IreneGonzález-Quintana, AdrianSerrano-Lorenzo, Pablo|||0000-0002-5661-7574Consuegra-García, InésAsensio-Peña, Sara|||0000-0002-2048-5899Ballester-Lopez, Alfonsina|||0000-0002-8922-1664Pintos-Morell, Guillem|||0000-0002-9347-2386Coll-Cantí, Jaume|||0000-0001-7128-1186Pareja-Galeano, HeliosDíez-Bermejo, JorgePérez Ruiz, Margarita|||0000-0001-7240-2082Andreu Périz, Antoni LluísPinós Figueras, Tomàs|||0000-0002-4379-0917Arenas, Joaquín|||0000-0002-2877-5049Martín, Miguel A.|||0000-0003-4741-772XLucia, Alejandro|||0000-0002-3025-2060McArdle diseaseSpanish patientsGenotypePhenotypeGlycogenosis type VWe recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Ninety-four new patients (all Caucasian) have been diagnosed, yielding a prevalence of ~1/139,543 individuals. Around 55% of the mutated alleles have the commonest PYGM pathogenic mutation p.R50X, whereas p.W798R and p.G205S account for 10 and 9% of the allelic variants, respectively. Seven new mutations were identified: p.H35R, p.R70C, p.R94Q, p.L132WfsX163, p.Q176P, p.R576Q, and c.244-3_244-2CA. Almost all patients show exercise intolerance, the second wind phenomenon and high serum creatine kinase activity. There is, however, heterogeneity in clinical severity, with 8% of patients being asymptomatic during normal daily life, and 21% showing limitations during daily activities and fixed muscle weakness. A major remaining challenge is one of diagnosis, which is often delayed until the third decade of life in 72% of new patients despite the vast majority (86%) reporting symptoms before 20 years. An important development is the growing proportion of those reporting a 4-year improvement in disease severity (now 34%) and following an active lifestyle (50%). Physically active patients are more likely to report an improvement after a 4-year period in the clinical course of the disease than their inactive peers (odds ratio: 13.98; 95% confidence interval: 5.6, 34.9; p < 0.001). Peak oxygen uptake is also higher in the former (20.7 ± 6.0 vs. 16.8 ± 5.3 mL/kg/min, p = 0.0013). Finally, there is no association between PYGM genotype and phenotype manifestation of the disease. The reported prevalence of McArdle disease grows exponentially despite frequent, long delays in genetic diagnosis, suggesting that many patients remain undiagnosed. Until a genetic cure is available (which is not predicted in the near future), current epidemiologic data support that adoption of an active lifestyle is the best medicine for these patients. 22017-01-0120172017-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/254036https://dx.doi.org/urn:doi:10.1186/s12864-017-4188-2reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/00558Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI12/00914Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI16/01492Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI13/00855Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI14/00903Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/01756Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI15/00431Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 CD14/00032open 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:2540362026-06-06T12:50:31Z |
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15,301603 |