Banca de DEFESA: MARIANA BEATRIZ DE SOUZA SANTOS FONSECA GINANE

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : MARIANA BEATRIZ DE SOUZA SANTOS FONSECA GINANE
DATE: 25/08/2025
TIME: 14:00
LOCAL: SALA 5 DO DEPTO DE FISIOTERAPIA - CAMPUS NATAL
TITLE:

Clinical and Respiratory Progression in Duchenne Muscular Dystrophy: A Longitudinal Study of Mortality-Associated Factors.

KEY WORDS:

Duchenne Muscular Dystrophy, ambulation loss, respiratory function, mortality

PAGES: 50
BIG AREA: Ciências da Saúde
AREA: Fisioterapia e Terapia Ocupacional
SUMMARY:

Introduction: In Duchenne Muscular Dystrophy (DMD), progressive muscle weakness compromises not only ambulation but also respiratory musculature, leading to a decline in pulmonary function and an increased risk of mortality. Parameters such as functional ambulation and respiratory volumes are essential for monitoring disease progression. Objectives: The primary objective of this study was to investigate factors associated with mortality in patients with DMD, with an emphasis on pulmonary function. Secondary objectives included evaluating the associations between loss of ambulation and pulmonary function, as well as between BiPAP use and respiratory parameters over time. Methods: This was a retrospective observational cohort study conducted between 2016 and 2025, including 40 patients diagnosed with DMD and followed at a specialized neuromuscular disease center in Rio Grande do Norte, Brazil. Clinical and motor variables (age at loss of ambulation), BiPAP use, pulmonary function tests, and mortality were analyzed. Bivariate analyses and binomial logistic regression were used to identify predictors of mortality. Results: The findings showed that predicted forced vital capacity (FVC%) (r = 0.41; 95% CI: 0.07–0.67; p = 0.021) and maximal inspiratory pressure (MIP) (r = 0.63; 95% CI: 0.27–0.84; p = 0.002) were independent predictors of mortality. Sniff nasal inspiratory pressure (SNIP) showed a strong correlation with BiPAP use (r = 0.60; 95% CI: 0.34–0.77; p < 0.001), suggesting its utility as an early marker of ventilatory insufficiency. A moderate association was also observed between pulmonary function decline and loss of ambulation (predicted FVC%: r = 0.30; 95% CI: 0.13–0.45; p < 0.001). Additionally, age at symptom onset was correlated with motor progression (r = 0.59; 95% CI: 0.41–0.72; p < 0.001). Conclusion: These findings reinforce the importance of pulmonary function—especially predicted FVC%, MIP, and SNIP—as relevant clinical indicators in DMD, associated with mortality, the need for non-invasive ventilation, and functional decline. Systematic and early respiratory monitoring is essential as a prognostic tool and to guide therapeutic interventions.

COMMITTEE MEMBERS:
Externa à Instituição - JESSICA DANIELLE MEDEIROS DA FONSECA - EBSERH
Interna - 2211046 - LUCIEN PERONI GUALDI
Presidente - 5566309 - VANESSA REGIANE RESQUETI FREGONEZI