Dados do Trabalho

Título

EVALUATION OF DIAPHRAGM FUNCTION BY ULTRASOUND IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

Introdução

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.

Objetivo

This study aims to evaluate the impairment of the diaphragm in patients with DMD at different stages of the disease.

Método

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).

Resultados e Conclusões

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.
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.

Palavras Chave

Duchenne muscular Dystrophy; muscle ultrasound; Diaphragm.

Declaração de conflito de interesses de TODOS os autores

não há conflito de interesse

Fonte de Fomento (se houver)

Referências (se houver)

Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019 Nov 30;394(10213):2025-2038. doi: 10.1016/S0140-6736(19)32910-1. PMID: 31789220.
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509-517, 1987
Pillen S, Arts IM, Zwarts MJ. Muscle ultrasound in neuromuscular disorders. Muscle Nerve. 2008 Jun;37(6):679-93. doi: 10.1002/mus.21015. PMID: 18506712.
Shklyar I, Geisbush TR, Mijialovic AS, Pasternak A, Darras BT, Wu JS, Rutkove SB, Zaidman CM. Quantitative muscle ultrasound in Duchenne muscular dystrophy: a comparison of techniques. Muscle Nerve. 2015 Feb;51(2):207-13. doi: 10.1002/mus.24296. Epub 2014 Dec 23. PMID: 24862337; PMCID: PMC4241391.
Wijntjes J, van Alfen N. Muscle ultrasound: Present state and future opportunities. Muscle Nerve. 2021 Apr;63(4):455-466. doi: 10.1002/mus.27081. Epub 2020 Oct 13. PMID: 33051891; PMCID: PMC8048972.
Wijntjes J, van der Hoeven J, Saris CGJ, Doorduin J, van Alfen N. Visual versus quantitative analysis of muscle ultrasound in neuromuscular disease. Muscle Nerve. 2022 Sep;66(3):253-261. doi: 10.1002/mus.27669. Epub 2022 Jul 16. PMID: 35765226; PMCID: PMC9545111.

Área

Doenças neuromusculares