Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

Detalhes bibliográficos
Autor(a) principal: Nozoe, Karen T. [UNIFESP]
Data de Publicação: 2016
Outros Autores: Akamine, RicardoT. [UNIFESP], Mazzotti, Diego R. [UNIFESP], Polesel, Daniel N. [UNIFESP], Grossklauss, Luis F. [UNIFESP], Tufik, Sergio [UNIFESP], Andersen, Monica L. [UNIFESP], Moreira, Gustavo A. [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1016/j.slsci.2016.07.0074
https://repositorio.unifesp.br/handle/11600/57554
Resumo: We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.
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spelling Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reportsDuchenne Muscular DystrophyFemale symptomaticSleep disordersNoninvasive ventilatory supportWe discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.Univ Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol, Sao Paulo, SP, BrazilWeb of ScienceAFIPCAPESCNPqFAPESPFAPESP: 2014/08067-0Elsevier Science Bv2020-08-14T13:44:15Z2020-08-14T13:44:15Z2016info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion129-133application/pdfhttp://dx.doi.org/10.1016/j.slsci.2016.07.0074Sleep Science. Amsterdam, v. 9, n. 3, p. 129-133, 2016.10.1016/j.slsci.2016.07.0074WOS000399920300001.pdf1984-0659https://repositorio.unifesp.br/handle/11600/57554WOS:000399920300001engSleep ScienceAmsterdaminfo:eu-repo/semantics/openAccessNozoe, Karen T. [UNIFESP]Akamine, RicardoT. [UNIFESP]Mazzotti, Diego R. [UNIFESP]Polesel, Daniel N. [UNIFESP]Grossklauss, Luis F. [UNIFESP]Tufik, Sergio [UNIFESP]Andersen, Monica L. [UNIFESP]Moreira, Gustavo A. [UNIFESP]reponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-01T05:41:16Zoai:repositorio.unifesp.br/:11600/57554Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-01T05:41:16Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
title Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
spellingShingle Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
Nozoe, Karen T. [UNIFESP]
Duchenne Muscular Dystrophy
Female symptomatic
Sleep disorders
Noninvasive ventilatory support
title_short Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
title_full Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
title_fullStr Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
title_full_unstemmed Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
title_sort Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports
author Nozoe, Karen T. [UNIFESP]
author_facet Nozoe, Karen T. [UNIFESP]
Akamine, RicardoT. [UNIFESP]
Mazzotti, Diego R. [UNIFESP]
Polesel, Daniel N. [UNIFESP]
Grossklauss, Luis F. [UNIFESP]
Tufik, Sergio [UNIFESP]
Andersen, Monica L. [UNIFESP]
Moreira, Gustavo A. [UNIFESP]
author_role author
author2 Akamine, RicardoT. [UNIFESP]
Mazzotti, Diego R. [UNIFESP]
Polesel, Daniel N. [UNIFESP]
Grossklauss, Luis F. [UNIFESP]
Tufik, Sergio [UNIFESP]
Andersen, Monica L. [UNIFESP]
Moreira, Gustavo A. [UNIFESP]
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Nozoe, Karen T. [UNIFESP]
Akamine, RicardoT. [UNIFESP]
Mazzotti, Diego R. [UNIFESP]
Polesel, Daniel N. [UNIFESP]
Grossklauss, Luis F. [UNIFESP]
Tufik, Sergio [UNIFESP]
Andersen, Monica L. [UNIFESP]
Moreira, Gustavo A. [UNIFESP]
dc.subject.por.fl_str_mv Duchenne Muscular Dystrophy
Female symptomatic
Sleep disorders
Noninvasive ventilatory support
topic Duchenne Muscular Dystrophy
Female symptomatic
Sleep disorders
Noninvasive ventilatory support
description We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the disease, with several clinical implications. In both cases, a progressive muscle weakness, impairment in walking and sleeping was observed, in addition to obstructive sleep apnea syndrome and alveolar hypoventilation, that required noninvasive ventilatory support. (C) 2016 Brazilian Association of Sleep. Production and Hosting by Elsevier B.V.
publishDate 2016
dc.date.none.fl_str_mv 2016
2020-08-14T13:44:15Z
2020-08-14T13:44:15Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1016/j.slsci.2016.07.0074
Sleep Science. Amsterdam, v. 9, n. 3, p. 129-133, 2016.
10.1016/j.slsci.2016.07.0074
WOS000399920300001.pdf
1984-0659
https://repositorio.unifesp.br/handle/11600/57554
WOS:000399920300001
url http://dx.doi.org/10.1016/j.slsci.2016.07.0074
https://repositorio.unifesp.br/handle/11600/57554
identifier_str_mv Sleep Science. Amsterdam, v. 9, n. 3, p. 129-133, 2016.
10.1016/j.slsci.2016.07.0074
WOS000399920300001.pdf
1984-0659
WOS:000399920300001
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Sleep Science
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 129-133
application/pdf
dc.coverage.none.fl_str_mv Amsterdam
dc.publisher.none.fl_str_mv Elsevier Science Bv
publisher.none.fl_str_mv Elsevier Science Bv
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
_version_ 1814268444306046976

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