Duchenne muscular dystrophy in Brazil: Advances, gaps, and challenges in diagnosis and treatment
DOI:
https://doi.org/10.33448/rsd-v15i4.51001Keywords:
Duchenne Muscular Dystrophy, Rare Diseases , Molecular Diagnosis, Therapeutics, Epidemiology.Abstract
Duchenne Muscular Dystrophy (DMD) is a rare, progressive genetic disorder associated with high morbidity and mortality, whose clinical management has evolved with advances in molecular diagnostics and disease-modifying therapies. However, in Brazil, significant gaps remain in scientific production, diagnostic access, and healthcare organization. This study aimed to analyze national scientific production on DMD, identifying methodological patterns, geographic distribution, diagnostic and therapeutic approaches, and knowledge gaps. This scoping review followed PRISMA-ScR guidelines. Searches were conducted in PubMed, SciELO, LILACS, and gray literature, considering publications from the last ten years. Original studies including Brazilian population data were selected. Study selection followed identification, screening, eligibility, and inclusion phases, and data were extracted and descriptively synthesized. Sixteen studies were included, with predominance of observational designs and case reports. Sample sizes ranged from 1 to 166 participants, with wide age variation. Cases were concentrated in the Southeast region (n = 154), followed by the Northeast (n = 94), South (n = 28), and North (n = 1), in addition to multicenter studies (n = 166). Studies addressed clinical, genetic, therapeutic, and economic aspects, highlighting the use of MLPA and NGS. Scientific production on DMD in Brazil is expanding but remains characterized by methodological heterogeneity and regional asymmetries, reinforcing the need for multicenter studies and early diagnosis strategies.
References
Albuquerque, M. A. V., Lima, K. D. F., Sindeaux, R. D. A., & Zanoteli, E. (2023). Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: Real-world experience. SBN Conference 2022. https://doi.org/10.1055/S-0043-1774433
Almeida, P. A. D. de, Machado-Costa, M., Manzoli, G. N., Ferreira, L. S., Rodrigues, M., Bueno, L. S. M., … França, M. (2017). Genetic profile of Brazilian patients with dystrophinopathies. Clinical Genetics. https://doi.org/10.1111/CGE.12975
Araujo, A., Nardes, F., Fortes, C. P. D. D., Pereira, J. A., Rebel, M. F., Dias, C. M., … Reis, E. F. (2018). Brazilian consensus on Duchenne muscular dystrophy. Part 2: Rehabilitation and systemic care. Arquivos de neuro-psiquiatria. https://doi.org/10.1590/0004-282X20180062
Araujo, A. P., de Carvalho, A. A., Cavalcanti, E. B., Saute, J. A. M., Carvalho, E., Junior, M. C. F., … de Resende, M. B. D. (2017). Brazilian consensus on Duchenne muscular dystrophy. Part 1: Diagnosis, steroid therapy and perspectives. Arquivos de neuro-psiquiatria, 75(08), 589–599.
Araujo, A. P. de Q. C. S., Jonas Alex Morales; Fortes, Clarisse Pereira Dias Drumond; França Jr, Marcondes Cavalcante; Pereira, Jaqueline Almeida; Albuquerque, Marco Antonio Veloso de; Carvalho, Alzira Alves de Siqueira; Cavalcanti, Eduardo Boiteux Uchôa; Covaleski, Anna Paula Paranhos Miranda; Fagondes, Simone Chaves; Gurgel-Giannetti, Juliana; Gonçalves, Marcus Vinicius Magno; Martinez, Alberto Rolim Muro; Coimbra Neto, Antônio Rodrigues; Neves, Flavio Reis; Nucci, Anamarli; Nucera, Ana Paula Cassetta dos Santos; Pessoa, Andre Luis Santos; Rebel, Marcos Ferreira; Santos, Flavia Nardes dos; Scola, Rosana Herminia; Sobreira, Cláudia Ferreira da Rosa. (2023). Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy. Arquivos de Neuro-Psiquiatria, 81(01), 081–094. https://doi.org/10.1055/s-0043-1761466
Bianco, B., Christofolini, D. M., Conceição, G. S., & Barbosa, C. P. (2017). Diagnóstico genético pré-implantacional associado à distrofia muscular de Duchenne. einstein (São Paulo), 15, 489–491.
Bladen, C. L., Salgado, D., Monges, S., Foncuberta, M. E., Kekou, K., Kosma, K., … Chamova, T. (2015). The TREAT‐NMD DMD Global Database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), 395–402.
Bonilha, G. S., Ranzan, I. C., & Pescador, M. V. B. (2021). Distúrbios endocrinológicos na Distrofia Muscular de Duchenne: Um relato de caso. Research, Society and Development, 10(8), e54910817773–e54910817773.
Braga, V. L. L., Lima, D. P., Mariano, T. C., Lima, P. L. G. de S. B., Maia, A. B. de A., da Silva Meireles, W. W., … Nóbrega, P. R. (2023). Higher prevalence of nonsense pathogenic DMD variants in a single-center cohort from Brazil: A genetic profile study that may guide the choice of disease-modifying treatments. Brain Sciences, 13(11), 1521.
Cardoso, T. M., & Henriques, S. F. B. (2024). Autism spectrum disorder as a warning sign for muscular dystrophy. Arquivos de Neuro-Psiquiatria, 82(S 02), A002.
Carvalho, L. R. de, Brito, L. A., Avelar, M. S. S., Augusto, L. B. X., Mariante, L. T., Viggiani, L. F., & Gama, H. V. P. (2024). Distrofia muscular de Duchenne e suas intervenções terapêuticas: Uma revisão integrativa da literatura. Revista Médica de Minas Gerais. Recuperado de https://api.semanticscholar.org/CorpusID:274266493
Costa Lopes, L., do Nascimento, R. F., Ruiz, B. A., da Silva, A. B. V., de Mello, L. V., Araújo, M. R. F., … de Paiva, R. F. (2018). Análise de dois casos de distrofia muscular de Duchenne na zona rural de Manhuaçu. Anais do Seminário Científico do UNIFACIG, (4).
Guglieri, M., Bushby, K., McDermott, M. P., Hart, K. A., Tawil, R., Martens, W. B., … Wilkinson, J. (2022). Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne muscular dystrophy: A randomized clinical trial. Jama, 327(15), 1456–1468.
Junior, J. R., Tussolini, J. F., Souza, A. C. S., Tolentino, S. P. da C., Melli, P. C., Neto, G. J. R. de F., … Queiroz, L. G. (2024). Distrofia muscular de Duchenne, crescimento e desenvolvimento. Um relato de caso sobre a distrofia muscular de Duchenne e suas especificidades em cada etapa do desenvolvimento humano. Brazilian Journal of Health Review, 7(9), e75578. https://doi.org/10.34119/bjhrv7n9-315
Mercuri, E., Bönnemann, C. G., & Muntoni, F. (2019). Muscular dystrophies. The Lancet, 394(10213), 2025–2038.
Risemberg, R. I. C., Wakin, M., & Shitsuka, R. (2026). A importância da metodologia científica no desenvolvimento de artigos científicos. E-Acadêmica, 7(1), e0171675. https://doi.org/10.52076/eacad-v7i1.675
Rodrigues, E. V., Pereira, A. P. L. C., Correa Filho, W. B., Lima, M. A. de F. D. de, Siqueira Junior, M. A. F., Nucera, A. P. C. dos S., & Souza, F. de. (2025).
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica. Santa Maria: Universidade Federal de Santa Maria (UFSM). Disponível em: https://repositorio.ufsm.br/handle/1/15824
Prevalence of Subclinical Left Ventricular Dysfunction Evaluated by Global Longitudinal Strain in Female Carriers of Duchenne Muscular Dystrophy. International Journal of Cardiovascular Sciences, 38, e20230125.
Santos, N. M., Rezende, M. de M., Terni, A., Hayashi, M. C. B., Fávero, F. M., Quadros, A. A. J., … Fontes, S. V. (2006). Perfil clínico e funcional dos pacientes com distrofia muscular de Duchenne assistidos na Associação Brasileira de Distrofia Muscular (ABDIM). Rev Neurocienc, 14(1), 15–22.
Shitsuka, R., Pereira, A. S., & Shitsuka, D. M. (2014). Matemática fundamental para tecnologia (2ª ed.). São Paulo: Editora Érica.
Schneider, N. B., Roos, E. C., Staub, A. L. P., Bevilacqua, I. P., de Almeida, A. C., de Camargo Martins, T., … Polanczyk, C. A. (2023). Estimated costs for Duchenne muscular dystrophy care in Brazil. Orphanet Journal of Rare Diseases, 18(1), 159. https://doi.org/10.1186/s13023-023-02767-6
Silva, B. do C. L. (2023). Distrofia Muscular de Duchenne: Do diagnóstico a Novas Estratégias Terapêuticas.
Silva, M. C., Magalhães, T., Meira, Z. M., Rassi, C., Andrade, A. C. de S., Gutierrez, P., … Rochitte, C. (2017). Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. JAMA cardiology. https://doi.org/10.1001/JAMACARDIO.2016.4801
Snyder, H. (2019). Literature review as a research methodology: An overview and guidelines. Journal of Business Research, 104, 333–339. https://doi.org/10.1016/j.jbusres.2019.07.039
Teixeira, A. R. F., Azevedo, M. L. G. de A. P. e, Russi, S., Ferreira, J. K. S., Ribeiro, F. dos S., Luca, A. P. B. N. de, … Santos, F. N. dos. (2024). Good response to the use of Ataluren in Duchenne muscular dystrophy: Case report. Arquivos de Neuro-Psiquiatria. https://doi.org/10.1055/S-0045-1806996
Tricco, A. C., Lillie, E., Zarin, W., O’Brien, K. K., Colquhoun, H., Levac, D., … Weeks, L. (2018). PRISMA extension for scoping reviews (PRISMA-ScR): Checklist and explanation. Annals of internal medicine, 169(7), 467–473.
Trindade, J. G. S., Batalha Filho, A. L., de Castro, P. S. P., Araujo, B. S. S., & Valadares, B. L. B. (2024). Prevalência da Distrofia Muscular de Duchenne no mundo: Uma revisão sistemática e metanálise. Research, Society and Development, 13(10), e105131047171–e105131047171.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 João Vitor Santos Nogueira, Gabriel da Silva Viana, Guilherme dos Santos Portugal Gomes, Luciano Carvalho Rapagnã
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
