Endocrinological disorders in Duchenne Muscular Dystrophy: A case report

Detalhes bibliográficos
Autor(a) principal: Bonilha, Gabriela Sacuno
Data de Publicação: 2021
Outros Autores: Ranzan, Isabel Cristina, Pescador, Marise Vilas Boas
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/17773
Resumo: Duchenne Muscular Dystrophy (DMD) is an inherited, autosomal recessive X-linked disease, affecting mainly males. There is progressive muscle impairment, starting with the proximal muscles of lower limbs, then reduction of upper limbs muscle strength and impairment of cardiac and respiratory muscles, with no curative therapy.  Thus, this is a case report of a patient with Duchenne Muscular Dystrophy, emphasizing the possible endocrinological effects that can manifest in this pathology. The best medication for the management of Duchenne Muscular Dystrophy is corticosteroid, which improves muscle strength, extending gait time, preserving the function of upper limbs, preventing scoliosis, reducing cardiomyopathy progression and delaying invasive ventilation need. However, this medication offers a range of adverse effects to these patients, making endocrinological care necessary, with the following objectives: monitoring growth, pubertal development, diagnosing hormonal deficiencies, providing replacement therapy when necessary and preventing the occurrence of adrenal crisis.
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spelling Endocrinological disorders in Duchenne Muscular Dystrophy: A case reportTrastornos endocrinológicos en la Distrofia Muscular de Duchenne: Reporte de um casoDistúrbios endocrinológicos na Distrofia Muscular de Duchenne: Um relato de casoMuscular DystrophyDuchenne Muscular DystrophyEndocrinology.Distrofias muscularesDistrofia Muscular de DuchenneEndocrinología.Distrofias MuscularesDistrofia Muscular de DuchenneEndocrinologia. Duchenne Muscular Dystrophy (DMD) is an inherited, autosomal recessive X-linked disease, affecting mainly males. There is progressive muscle impairment, starting with the proximal muscles of lower limbs, then reduction of upper limbs muscle strength and impairment of cardiac and respiratory muscles, with no curative therapy.  Thus, this is a case report of a patient with Duchenne Muscular Dystrophy, emphasizing the possible endocrinological effects that can manifest in this pathology. The best medication for the management of Duchenne Muscular Dystrophy is corticosteroid, which improves muscle strength, extending gait time, preserving the function of upper limbs, preventing scoliosis, reducing cardiomyopathy progression and delaying invasive ventilation need. However, this medication offers a range of adverse effects to these patients, making endocrinological care necessary, with the following objectives: monitoring growth, pubertal development, diagnosing hormonal deficiencies, providing replacement therapy when necessary and preventing the occurrence of adrenal crisis.La distrofia muscular de Duchenne (DMD) es una enfermedad hereditaria autosómica recesiva ligada al cromosoma X, que afecta principalmente a los hombres. Hay un deterioro muscular progresivo, comenzando por los músculos proximales de los miembros inferiores, luego hay una reducción de la fuerza muscular en los miembros superiores y un deterioro de los músculos cardíaco y respiratorio, sin tratamiento curativo. Así, este trabajo tiene como objetivo reportar un caso de un paciente con distrofia muscular de Duchenne, enfatizando los posibles efectos endocrinológicos que pueden manifestarse en esta patología. El mejor medicamento para controlar la enfermedad son los corticosteroides, que mejoran la fuerza muscular, prolongan el tiempo de caminata, preservan la función de las extremidades superiores, previenen escoliosis, reducen progresión de la miocardiopatía y retrasan la necesidad de ventilación invasiva. Sin embargo, este medicamento ofrece un abanico de efectos adversos a estos pacientes, requiriendo cuidados endocrinológicos, con los siguientes objetivos: monitorizar el crecimiento, desarrollo puberal, diagnosticar deficiencias hormonales, proporcionar terapia sustitutiva cuando sea necesario y prevenir la aparición de crisis suprarrenales.A Distrofia Muscular de Duchenne (DMD) é uma doença hereditária, autossômica recessiva ligada ao X, acometendo, principalmente, o sexo masculino. Há o comprometimento muscular progressivo, começando pelos músculos proximais dos membros inferiores, depois ocorre redução da força muscular dos membros superiores e comprometimento dos músculos cardíacos e respiratórios, não existindo terapia curativa. Dessa forma, este trabalho tem como objetivo relatar um caso de um paciente com distrofia muscular de Duchenne, enfatizando os possíveis efeitos endocrinológicos que podem manifestar-se nessa patologia. A melhor medicação para o manejo da doença é o corticosteroide, o qual melhora a força muscular, prologando o tempo de marcha, preservando a função dos membros superiores, prevenindo escoliose, reduzindo progressão da cardiomiopatia e atrasando a necessidade de ventilação invasiva.  No entanto, essa medicação oferece uma gama de efeitos adversos a esses pacientes, se fazendo necessário o atendimento endocrinológico, com os seguintes objetivos: monitorar o crescimento, desenvolvimento puberal, diagnosticar deficiências hormonais, fornecendo terapia de reposição quando necessário e prevenindo a ocorrência de crise adrenal.Research, Society and Development2021-07-17info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/1777310.33448/rsd-v10i8.17773Research, Society and Development; Vol. 10 No. 8; e54910817773Research, Society and Development; Vol. 10 Núm. 8; e54910817773Research, Society and Development; v. 10 n. 8; e549108177732525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/17773/15764Copyright (c) 2021 Gabriela Sacuno Bonilha; Isabel Cristina Ranzan; Marise Vilas Boas Pescadorhttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessBonilha, Gabriela Sacuno Ranzan, Isabel Cristina Pescador, Marise Vilas Boas 2021-08-21T18:46:59Zoai:ojs.pkp.sfu.ca:article/17773Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:38:03.197397Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
Trastornos endocrinológicos en la Distrofia Muscular de Duchenne: Reporte de um caso
Distúrbios endocrinológicos na Distrofia Muscular de Duchenne: Um relato de caso
title Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
spellingShingle Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
Bonilha, Gabriela Sacuno
Muscular Dystrophy
Duchenne Muscular Dystrophy
Endocrinology.
Distrofias musculares
Distrofia Muscular de Duchenne
Endocrinología.
Distrofias Musculares
Distrofia Muscular de Duchenne
Endocrinologia.
title_short Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
title_full Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
title_fullStr Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
title_full_unstemmed Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
title_sort Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
author Bonilha, Gabriela Sacuno
author_facet Bonilha, Gabriela Sacuno
Ranzan, Isabel Cristina
Pescador, Marise Vilas Boas
author_role author
author2 Ranzan, Isabel Cristina
Pescador, Marise Vilas Boas
author2_role author
author
dc.contributor.author.fl_str_mv Bonilha, Gabriela Sacuno
Ranzan, Isabel Cristina
Pescador, Marise Vilas Boas
dc.subject.por.fl_str_mv Muscular Dystrophy
Duchenne Muscular Dystrophy
Endocrinology.
Distrofias musculares
Distrofia Muscular de Duchenne
Endocrinología.
Distrofias Musculares
Distrofia Muscular de Duchenne
Endocrinologia.
topic Muscular Dystrophy
Duchenne Muscular Dystrophy
Endocrinology.
Distrofias musculares
Distrofia Muscular de Duchenne
Endocrinología.
Distrofias Musculares
Distrofia Muscular de Duchenne
Endocrinologia.
description Duchenne Muscular Dystrophy (DMD) is an inherited, autosomal recessive X-linked disease, affecting mainly males. There is progressive muscle impairment, starting with the proximal muscles of lower limbs, then reduction of upper limbs muscle strength and impairment of cardiac and respiratory muscles, with no curative therapy.  Thus, this is a case report of a patient with Duchenne Muscular Dystrophy, emphasizing the possible endocrinological effects that can manifest in this pathology. The best medication for the management of Duchenne Muscular Dystrophy is corticosteroid, which improves muscle strength, extending gait time, preserving the function of upper limbs, preventing scoliosis, reducing cardiomyopathy progression and delaying invasive ventilation need. However, this medication offers a range of adverse effects to these patients, making endocrinological care necessary, with the following objectives: monitoring growth, pubertal development, diagnosing hormonal deficiencies, providing replacement therapy when necessary and preventing the occurrence of adrenal crisis.
publishDate 2021
dc.date.none.fl_str_mv 2021-07-17
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/17773
10.33448/rsd-v10i8.17773
url https://rsdjournal.org/index.php/rsd/article/view/17773
identifier_str_mv 10.33448/rsd-v10i8.17773
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/17773/15764
dc.rights.driver.fl_str_mv Copyright (c) 2021 Gabriela Sacuno Bonilha; Isabel Cristina Ranzan; Marise Vilas Boas Pescador
https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2021 Gabriela Sacuno Bonilha; Isabel Cristina Ranzan; Marise Vilas Boas Pescador
https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 10 No. 8; e54910817773
Research, Society and Development; Vol. 10 Núm. 8; e54910817773
Research, Society and Development; v. 10 n. 8; e54910817773
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
institution UNIFEI
reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
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