Dados do Trabalho

Título

ASSESSMENT OF LUNG FUNCTION AND ULTRASOUND OF RESPIRATORY MUSCLES IN DUCHENNE MUSCULAR DYSTROPHY

Introdução

Duchenne muscular dystrophy (DMD) is a genetic disease related to a mutation in the dystrophin gene. Symptoms begin in early childhood with progressive muscle weakness and loss of walking, progressing to cardiac and respiratory failure. The muscle ultrasound technique has been studied as an auxiliary exam to detect different degrees of muscle involvement and disease progression in neuromuscular pathologies.

Objetivo

Correlate lung function with respiratory and non-respiratory muscles using muscle ultrasound in patients with DMD at different stages of the disease.

Método

This is a prospective observational study, which included male patients, between 5 and 18 years of age with DMD. Clinical data were collected, and muscle ultrasound was performed to evaluate 12 muscle types (respiratory, appendicular, and axial) and transformed into quantitative analysis using histograms. Pulmonary lung function evaluation comprised FVC (forced vital capacity) and peak cough flow (PCF). Motor function was assessed by applying the MFM-32 (Motor Function Measure) scale.

Resultados

42 patients were included. All underwent muscle ultrasound and 24 underwent pulmonary function testing and application of the MFM scale. The average age was 11 years, the average age at diagnosis was 6.3 years, and 35.7% had lost the ability to walk. All the patients were using corticosteroids. The average FVC was 87.7% and the PCF was 231.9 l/min. There was a statistically significant correlation between age and FVC with the histograms of the 1st interosseous, biceps brachii, medial gastrocnemius, and digastric muscles. On the motor scale, the variables D1, D2, and total D (MFM-32 motor scale) were correlated with FVC, and D1 with age.

Conclusão

Muscle ultrasound can be an important tool for evaluating muscle involvement and disease progression in patients with DMD, as well as identifying indirect markers of pulmonary involvement.

Referências

DUAN, D. et al. Duchenne muscular dystrophy. Nat Rev Dis Primers, v. 7, n. 1, p. 13, Feb 18 2021. ISSN 2056-676X. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/33602943 >.
MERCURI, E.; BÖNNEMANN, C. G.; MUNTONI, F. Muscular dystrophies. Lancet, v. 394, n. 10213, p. 2025-2038, Nov 30 2019. ISSN 1474-547X. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/31789220 >.
WIJNTJES, J. et al. Visual versus quantitative analysis of muscle ultrasound in neuromuscular disease. Muscle Nerve, v. 66, n. 3, p. 253-261, Sep 2022. ISSN 1097-4598. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/35765226 >.
PILLEN, S. et al. Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease. Neuromuscul Disord, v. 17, n. 7, p. 509-16, Jul 2007. ISSN 0960-8966. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/17537635 >
GAULD, L. M.; BOYNTON, A. Relationship between peak cough flow and spirometry in Duchenne muscular dystrophy. Pediatr Pulmonol, v. 39, n. 5, p. 457-60, May 2005. ISSN 8755-6863. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/15765540 >
SARWAL, A.; WALKER, F. O.; CARTWRIGHT, M. S. Neuromuscular ultrasound for evaluation of the diaphragm. Muscle Nerve, v. 47, n. 3, p. 319-29, Mar 2013. ISSN 1097-4598. Disponível em: < https://www.ncbi.nlm.nih.gov/pubmed/23382111 >.

Palavras Chave

Duchenne muscular dystrophy; Ultrasound Image; Respiratory Function Tests