Distrofias Musculares das Cinturas autossómicas recessivas diagnosticadas nos Hospitais da Universidade de Coimbra

Detalhes bibliográficos
Autor(a) principal: Negrão, Luis
Data de Publicação: 2012
Outros Autores: Geraldo, Argemiro, Rebelo, Olinda, Matos, Anabela, Santos, Rosário, Bronze-da-Rocha, Elsa
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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spelling 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
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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