Dados do Trabalho
CORRELATION BETWEEN ULTRASOUND ASSESSMENT OF MUSCULATURE WITH LUNG FUNCTION IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY
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 musculoskeletal 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. Spirometric parameters such as forced vital capacity (FVC) are used to monitor lung function. Muscle ultrasound has been increasingly used in neuromuscular diseases and allows you to evaluate the muscles individually.
This study aims to evaluate the correlation between lung function and muscle involvement in DMD at different stages of the disease.
This is a prospective observational study with 22 patients with DMD followed-up at the Hospital das Clínicas de São Paulo - HC/FMUSP, with the assessment of eleven muscles (axial, appendicular, and respiratory) by ultrasonography in Duchenne muscular dystrophy (DMD) patients through quantitative analysis by histogram and correlating the results with the Forced Vital Capacity (FVC).
Resultados e Conclusões
The muscle involvement of the 1st interosseous and rectus femoris increased proportionally with age. The degree of muscle involvement of the first interosseous, biceps brachii, deltoid, rectus femoris, anterior tibialis, and medial gastrocnemius muscles increased with the reduction of FVC with statistical significance. The correlation between the histogram of diaphragmatic and intercostal muscles with FVC was not statistically significant.
The 1st interosseous and Rectus femoris muscles had a statistical correlation with age and FVC. The degree of involvement of the diaphragm and intercostal muscles did not correlate with FVC; 1st interosseous bone may be an indirect marker of disease progression and respiratory involvement. The follow-up of these patients will determine the value of ultrasound in the long-term follow-up of respiratory and appendicular muscles in patients with DMD.
muscle ultrasound; Neuromuscular disorders; Duchenne muscular Dystrophy
Declaração de conflito de interesses de TODOS os autores
Sem conflitos de interesses
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.
Faculdade de Medicina da USP, Hospital das Clinicas de São Paulo - São Paulo - Brasil
KARLLA DANIELLE FERREIRA LIMA, PEDRO HENRIQUE MARTE ARRUDA SAMPAIO, MARCO ANTÔNIO VELOSO ALBUQUERQUE, EDMAR ZANOTELI