Impacto do consenso brasileiro de 2018 no manejo clínico e perfil epidemiológico da distrofia muscular de Duchenne: estudo longitudinal em um centro de referência no Rio de Janeiro (2012-2025)

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is the most common of the muscular dystrophies, a serious disease that predominantly affects boys. It is characterized by progressive weakness, early loss of ambulation, dependence on assisted ventilation, and premature death, and is commonly associated with neurodevelopmental disorders such as intellectual disability. In 2017 and 2018, the two parts of the first Brazilian consensus on DMD were published. Objectives: This study aimed to analyze the clinical-epidemiological-genetic profile of DMD patients followed at a reference center for the disease located in the state of Rio de Janeiro – Brazil, as well as to check whether there have been advances in the management of this population after the publication of the consensus. Methods: A descriptive, observational, and retrospective study was conducted on 105 DMD patients, divided into two groups: pre-consensus (2012-2018) and postconsensus (2019-2025). Variables related to epidemiology, development, clinical evolution, diagnosis, complementary exams, and management, such as the initiation of corticosteroid therapy and cardioprotective medications, were verified and compared. Results: Significant reductions were observed in the age of first outpatient visit, age at diagnosis, interval between symptom onset and diagnostic confirmation, initiation of corticosteroid therapy, and initiation of cardioprotective medications (p<0.05). No differences were found regarding the use of deflazacort as the initial corticosteroid, age at start of non-invasive ventilation, age at loss of ambulation, mortality, the proportion of diagnoses confirmed by muscle biopsy or the correlation between distal mutations and prevalence of intellectual disability. Conclusion: This study highlights the improvement in the care of patients with DMD over the last decade, establishing a correlation with the 2017/18 national consensus. Future perspectives may focus on expanding the analysis to a national level, as well as seeking larger samples of older patients to better evaluate the primary outcomes of the disease, such as loss of ambulation and mortality.