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Evaluation of lung function and respiratory muscles in Duchenne muscular dystrophy

2023; Medical Association of São Paulo; Linguagem: Inglês

10.5327/1516-3180.141s1.695

1806-9460

Karlla Danielle Ferreira Lima, Pedro Henrique Marte Arruda Sampaio, Marco Antônio Veloso Albuquerque, Edmar Zanoteli,

Chronic Obstructive Pulmonary Disease (COPD) Research

Introduction: Duchenne muscular Dystrophy (DMD) is a genetic disease of recessive inheritance linked to the X chromosome, caused by a mutation in the dystrophin gene. This mutation will result in absence of the dystrophin protein, leading to the degeneration of muscle skeletal. The disease is the most common childhood-onset form of muscular dystrophy and affects males almost exclusively. DMD symptoms onset occurs in early childhood, usually between the ages of three and five years, with progressive muscle weakness and loss of gait in adolescence, progressive cardiomyopathy, and respiratory failure, leading to death. Spirometric parameters such as forced vital capacity (FVC) are used to monitor lung function. Muscle ultrasound has been increasingly used in neuromuscular diseases, being a possible tool for evaluating respiratory muscles individually and a non-invasive method of assessing diaphragm function. Objectives: This study aims to evaluate lung function and respiratory muscles in patients with DMD at different stages of the disease. Methods: This is a prospective observational study with 25 patients with DMD follow-up at the Hospital das Clínicas de São Paulo (HC/FMUSP), with Assessment of diaphragmatic thickness by ultrasonography in DMD patients and correlate with FVC. Results: Diphragmatic thickness significantly decreased with age and with the reduction of the FVC in DMD patients. Some patients had pseudo hypertrophy of the diaphragm but without related reduction in lung function. Conclusion: Ultrasound of respiratory and appendicular muscles can help in the assessment of respiratory function and possible indirect markers of worsening lung function.