Fatores genéticos associados à Distrofia Muscular de Duchenne: uma revisão de literatura

Abstract

Introduction: Characterized by irreversible muscle degeneration, Duchenne’s Dystrophy (DMD) is a hereditary disorder, being the most common muscular dystrophy in childhood, despite the recessive inheritance pattern linked to the justifying the disease to be almost exclusively male. Because it is a complex mutation in the DMD gene, compromising the production of dystrophin and the difficulty in finding a cure, advances in research and the search for new means of treatment lack new incentives and corroborate the poor prognosis. Objectives: To scientifically analyze the molecular and pathophysiological genetics of DMD. Methodology: A narrative review of the literature, descriptive and analytical. This article included research on the databases PubMed, ScienceDirect, Scielo, Cochrane Library and BVS from 2017 to 2025 in Portuguese, English and Spanish. Conclusion: The advancement in genetic knowledge allowed to understand the genotype-phenotype correlation and boosted the development of innovative therapies, such as exon skipping, stop codon reading (readthrough), gene therapy with micro-dystrophin and genomic editing with CRISPR/Cas9. Although there is still no cure, these approaches, associated with the use of corticosteroids and early rehabilitation, have prolonged survival and improved patients' quality of life, representing a milestone in precision medicine applied to neuromuscular diseases.