Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/1225 |
Resumo: | Introduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology Department of the Coimbra University Hospital. Material and Methods The medical files of the patients with a diagnosis of LGMD2 were analysed and individual clinical, laboratory, pathologic and molecular data were recorded. The time frame of analysis was from 2000 to 2010. Results Forty-two patients from thirty-nine unrelated families were identified with a LGMD2 diagnosis. There were twenty-three female and nineteen male patients. Parental consan¬guinity was reported in eighteen patients (fifteen families). Their actual mean age is 44.6 years and the mean age of first symptoms was 23.2 years. The mean time from first symptoms to genetic diagnosis was 16.2 years. Twenty patients are wheel¬chair bound and seventeen can't raise the arms above the shoulder level. Three patients presented symptomatic dilated cardiomyopathy and twelve patients a restrictive respiratory syndrome, which was severe in five. The mean CK value was elevated in all LGMD2 subtypes. Immunohistochemistry sug¬gested the specific diagnosis in twenty patients (LGMD2B: 11; LGMD2C-F: 9). Molecular studies performed in forty-one patients revealed 27 homozygous mutations, 11 compound heterozygous mutations and 3 heterozygous mutations. The LGMD2 subtypes diagnosed and the number of patients of each subtype was: LGMD2A: 5, LGMD2B: 16, LGMD2C-F: 9 (one patient without molecular study), LGMD2G: I, LGMD2I: 7, LGMD2J: 1. LGMD2L: 3. Conclusion This retrospective analysis shows that most of the autoso¬mal recessive LGMDs subtypes are represented in Portugal, being the LGMD2B subtype the most frequente. Rarer sub¬types, like LGMD2G and J, were also found rare. |
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Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de CoimbraDoenças GenéticasLimb-Girdle Muscular dystrophies in PortugalLGMDAutosomal Recessive LGMDIntroduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology Department of the Coimbra University Hospital. Material and Methods The medical files of the patients with a diagnosis of LGMD2 were analysed and individual clinical, laboratory, pathologic and molecular data were recorded. The time frame of analysis was from 2000 to 2010. Results Forty-two patients from thirty-nine unrelated families were identified with a LGMD2 diagnosis. There were twenty-three female and nineteen male patients. Parental consan¬guinity was reported in eighteen patients (fifteen families). Their actual mean age is 44.6 years and the mean age of first symptoms was 23.2 years. The mean time from first symptoms to genetic diagnosis was 16.2 years. Twenty patients are wheel¬chair bound and seventeen can't raise the arms above the shoulder level. Three patients presented symptomatic dilated cardiomyopathy and twelve patients a restrictive respiratory syndrome, which was severe in five. The mean CK value was elevated in all LGMD2 subtypes. Immunohistochemistry sug¬gested the specific diagnosis in twenty patients (LGMD2B: 11; LGMD2C-F: 9). Molecular studies performed in forty-one patients revealed 27 homozygous mutations, 11 compound heterozygous mutations and 3 heterozygous mutations. The LGMD2 subtypes diagnosed and the number of patients of each subtype was: LGMD2A: 5, LGMD2B: 16, LGMD2C-F: 9 (one patient without molecular study), LGMD2G: I, LGMD2I: 7, LGMD2J: 1. LGMD2L: 3. Conclusion This retrospective analysis shows that most of the autoso¬mal recessive LGMDs subtypes are represented in Portugal, being the LGMD2B subtype the most frequente. Rarer sub¬types, like LGMD2G and J, were also found rare.Sociedade Portuguesa de NeurologiaRepositório Científico do Instituto Nacional de SaúdeNegrão, LuisGeraldo, ArgemiroRebelo, OlindaMatos, AnabelaSantos, RosárioBronze-da-Rocha, Elsa2013-02-11T12:36:23Z2012-052012-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/1225engSinapse Maio 2012;12:1:13-211645-281Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:37Zoai:repositorio.insa.pt:10400.18/1225Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:36:22.889534Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
title |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
spellingShingle |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra Negrão, Luis Doenças Genéticas Limb-Girdle Muscular dystrophies in Portugal LGMD Autosomal Recessive LGMD |
title_short |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
title_full |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
title_fullStr |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
title_full_unstemmed |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
title_sort |
Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra |
author |
Negrão, Luis |
author_facet |
Negrão, Luis Geraldo, Argemiro Rebelo, Olinda Matos, Anabela Santos, Rosário Bronze-da-Rocha, Elsa |
author_role |
author |
author2 |
Geraldo, Argemiro Rebelo, Olinda Matos, Anabela Santos, Rosário Bronze-da-Rocha, Elsa |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Negrão, Luis Geraldo, Argemiro Rebelo, Olinda Matos, Anabela Santos, Rosário Bronze-da-Rocha, Elsa |
dc.subject.por.fl_str_mv |
Doenças Genéticas Limb-Girdle Muscular dystrophies in Portugal LGMD Autosomal Recessive LGMD |
topic |
Doenças Genéticas Limb-Girdle Muscular dystrophies in Portugal LGMD Autosomal Recessive LGMD |
description |
Introduction Limb-girdle muscular dystrophies (LGMDs) are a hetero¬geneous group of muscle diseases. Autosomal dominant (LGMD1) and recessive (LGMD2) forms are recognized, each one with several subtypes. In Portugal there are no studies reporting the relative distribution of the different subtypes of LGMD2. Objective To determine the subtypes of LGMD2 diagnosed and their relative distribution at the Neurology Department of the Coimbra University Hospital. Material and Methods The medical files of the patients with a diagnosis of LGMD2 were analysed and individual clinical, laboratory, pathologic and molecular data were recorded. The time frame of analysis was from 2000 to 2010. Results Forty-two patients from thirty-nine unrelated families were identified with a LGMD2 diagnosis. There were twenty-three female and nineteen male patients. Parental consan¬guinity was reported in eighteen patients (fifteen families). Their actual mean age is 44.6 years and the mean age of first symptoms was 23.2 years. The mean time from first symptoms to genetic diagnosis was 16.2 years. Twenty patients are wheel¬chair bound and seventeen can't raise the arms above the shoulder level. Three patients presented symptomatic dilated cardiomyopathy and twelve patients a restrictive respiratory syndrome, which was severe in five. The mean CK value was elevated in all LGMD2 subtypes. Immunohistochemistry sug¬gested the specific diagnosis in twenty patients (LGMD2B: 11; LGMD2C-F: 9). Molecular studies performed in forty-one patients revealed 27 homozygous mutations, 11 compound heterozygous mutations and 3 heterozygous mutations. The LGMD2 subtypes diagnosed and the number of patients of each subtype was: LGMD2A: 5, LGMD2B: 16, LGMD2C-F: 9 (one patient without molecular study), LGMD2G: I, LGMD2I: 7, LGMD2J: 1. LGMD2L: 3. Conclusion This retrospective analysis shows that most of the autoso¬mal recessive LGMDs subtypes are represented in Portugal, being the LGMD2B subtype the most frequente. Rarer sub¬types, like LGMD2G and J, were also found rare. |
publishDate |
2012 |
dc.date.none.fl_str_mv |
2012-05 2012-05-01T00:00:00Z 2013-02-11T12:36:23Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/1225 |
url |
http://hdl.handle.net/10400.18/1225 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Sinapse Maio 2012;12:1:13-21 1645-281X |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Neurologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Neurologia |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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