Evaluation of diaphragm function by ultrasound in patients with Duchenne muscular dystrophy

*Correspondence: [e-mail].

Abstract

Background: 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 the dystrophin protein's absence, leading to muscle skeletal degeneration. 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 3 and 5 years, with progressive muscle weakness and loss of gait in adolescence, progressive cardiomyopathy, and respiratory failure, leading to death. Muscle ultrasound has been increasingly used in neuromuscular diseases and allows to evaluate the diaphragmatic function.

Objective: To evaluate the impairment of the diaphragm in patients with DMD at different stages of the disease.

Methods: This is a prospective observational study with 22 patients with DMD followed at the Hospital das Clínicas de São Paulo - HC/FMUSP, from April 2022 to April 2023. They were evaluated by ultrasound of the diaphragm at maximum inspiration and maximum expiration and correlated with age and FVC (forced vital capacity).

Results: The mean age of the patients was 11.4 years (8-18 years), The mean onset of symptoms was 3.3 years (1-6 years). All were using steroids (deflazacort or prednisolone). None of the patients had diaphragmatic paralysis. There was no correlation between diaphragm mobility with age and FVC.

Conclusion: The reduction in lung function in patients with DMD with a mean age of 11,4 years is not accompanied by a reduction in diaphragmatic mobility. Diaphragmatic paralysis was not found in our series.

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Artikel online veröffentlicht:
12. Mai 2025