Introduction: Duchenne Muscular Dystrophy (DMD) is one of the most frequent hereditary neuromuscular disorders in male worldwide. In Brazil, the characterization of disease is precarious, despite an estimate of 300 new cases per year. Current treatments have increased life expectancy, but not were associated to a cure. Molecular gene therapies have increased the hope that one day a cure for this debilitating disease will be found. Therefore, clinical and molecular knowledge of disease is essential to better understand the disease.
Aim: The aim of this study is to clinically and molecularly characterize a Brazilian sample of patients with DMD.
Methods: In this retrospective work, clinical and molecular data from 377 genetically confirmed cases with DMD were collected through the analysis of medical records provided anonymously by neurologists throughout Brazil until 2021.
Results: Average age of patients diagnosed was 6 years old, with creatine kinase average of 6970 UI/L; 60% of them were wheelchair users and 27% used bipap. Patient´s frequency distribution per Brazilian regions was 2% in the North,19% in the Northeast, 8% in the Midwest, 64% in the South and 6% in the Southeast. Considering gene variants 67% presented exon deletion, 22% exon duplication, 2% point mutation (missense), 13% point mutation (nonsense) and 7% an intronic variant. In our study the frequency of gene therapy treatable variants was 3% of exon 45 deletion, 2% of exon 51 deletion and 0,3% of exon 53 deletion.
Conclusion: This study highlights the importance of data collection through patient records, as it can direct towards a more personalized treatment, improving the quality of life of these patients and directing public health policies.