Endocrinological disorders in Duchenne Muscular Dystrophy: A case report
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , |
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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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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1797052683229593600 |