Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Authors

  • Candida Luiza Tonizza de Carvalho Author
  • Leslie Cristina Pinto Levy Author
  • Roberta Muniz Marques Author

DOI:

https://doi.org/10.51473/rcmos.v1i1.2025.808

Keywords:

Duchenne Muscular Dystrophy, Pathology, Dystrophin.

Abstract

Duchenne muscular dystrophy (DMD) is a recessive X-linked disease, a progressive
and incurable disease that primarily affects the skeletal muscles. The dystrophin, a
structural protein that is related to stabilization of muscle contraction is absent or
altered in DMD. Patients with this dystrophy exhibit muscle wasting, impairing the
ability to run, jump and climb ladders, culminating in a confinement to a wheelchair, on
average 12 years old. Due to inactivity and immobility of the respiratory muscles, these
patients will die due to respiratory complications. Several therapeutic strategies have
been studied to improve the quality of life of these patients and their prognostics. The
present study consists of a literature review, covering the main aspects of pathology and
pointing out some of the different therapeutic strategies.

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Author Biographies

  • Candida Luiza Tonizza de Carvalho

    (1) Professora das Faculdades de Fisioterapia, Psicologia, Educação Física e Ciências
    Biológicas na Pontifícia Universidade Católica de Campinas, Doutora em Biologia
    Celular e Estrutural - Anatomia/Neuroanatomia na Universidade Estadual de Campinas.
    E-mail: cltcarvalho@gmail.com Telefone: (19)35791619/ (19)992079942. Número de
    Registro ORCID: 0000-0001-5221-4041

  • Leslie Cristina Pinto Levy

    (2) Professora das Faculdades de Medicina, Fisioterapia, Odontologia e Educação
    Física na Pontifícia Universidade Católica de Campinas, Mestre em Biologia Celular e
    Estrutural - Anatomia/Neuroanatomia na Universidade Estadual de Campinas. E-mail:
    lesliececi@gmail.com Telefone: (19)988443152. Número de Registro ORCID: 0000-
    0001-8738-3662

  • Roberta Muniz Marques

    (3) Graduanda em Medicina na Pontifícia Universidade Católica de Campinas. E-mail:
    robertammarques30@gmail.com Telefone: (19)981705627. Número de Registro
    ORCID: 0000-0003-0120-2184

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Published

2025-01-03

How to Cite

DE CARVALHO, Candida Luiza Tonizza; LEVY, Leslie Cristina Pinto; MARQUES, Roberta Muniz. Duchenne Muscular Dystrophy: Duchenne Muscular Dystrophy. Multidisciplinary Scientific Journal The Knowledge, Brasil, v. 1, n. 1, 2025. DOI: 10.51473/rcmos.v1i1.2025.808. Disponível em: https://submissoesrevistacientificaosaber.com/index.php/rcmos/article/view/808.. Acesso em: 3 feb. 2025.

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