Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood

Article type: Research Article

Authors: Fayssoil, Abdallah^{a; c; *} | Chaffaut, Cendrine^b | Ogna, Adam^a | Stojkovic, Tanya^c | Lamothe, Laure^a | Mompoint, Dominique^d | Meng, Paris^a | Prigent, Helene^e | Clair, Bernard^a | Behin, Anthony^c | Laforet, Pascal^c | Bassez, Guillaume^c | Carlier, Robert^d | Orlikowski, David^{a; f} | Amthor, Helge^g | Quijano Roy, Susana^g | Crenn, Pascal^h | Chevret, Sylvie^b | Eymard, Bruno^c | Lofaso, Frederic^e | Annane, Djillali^a

Affiliations: [a] Service de Réanimation msédicale et unité de ventilation à domicile, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France | [b] SBIM, CHU Saint Louis, APHP, Université Paris Diderot, Paris, France | [c] Institut de Myologie, CHU Pitié Salpetrière, Paris, France | [d] Service de Radiologie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France | [e] Service de Physiologie - Explorations fonctionnelles, CHU Raymond Poincaré, APHP, Université de Versailles saint Quentin en Yvelines, Garches, France | [f] Centre d’Investigation clinique et Innovation technologique CIC 14.29, INSERM, Garches, France | [g] Service de Pédiatrie, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France | [h] Service de nutrition, CHU Raymond Poincaré, APHP, Université de Versailles Saint Quentin en Yvelines, Garches, France

Correspondence: [*] Correspondence to: Abdallah Fayssoil, MD, PhD, CHU Raymond Poincaré, Garches, France, Institut de Myologie, GH Pitié Salpetrière, Paris, France. Tel.: +33 0147107778; Fax: +33 01 47 10 77 83; E-mail: abdallah.fayssoil@aphp.fr.

Abstract: Background:Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic muscle disorder. Respiratory muscle function is classically affected in this disease. Ultrasound recently emerged as a non-invasive tool to assess diaphragm function. However, there are only a few studies using diaphragm ultrasound (US) in DMD. Purpose:We aimed to assess diaphragm ultrasound patterns in DMD, their relationship with age and their association with home mechanical ventilation (HMV). Methods:We included DMD patients followed at Raymond Poincaré Hospital who benefited from diaphragm ultrasound and pulmonary function tests. Results:There were 110 DMD patients and 17 male sex-matched healthy subjects included. In all, 94% of patients were permanent wheelchair users. Median body mass index (BMI) was 18 kg/m2. DMD patients disclosed a reduced forced vital capacity (VC) (12% of predicted value), and 78% of patients were on HMV. In patients, right and left diaphragmatic motions on deep inspiration were reduced and end expiratory diaphragm thickness was borderline normal. In patients, right and left diaphragmatic thickening fractions (TF) were reduced 12.7% and 15.5%, respectively. Age and end expiratory thickness were significantly inversely associated (p = 0.005 for the right diaphragm, p = 0.018 for the left diaphragm). Diaphragm TF was significantly inversely associated with age (p = 0.001 for the right side, p < 0.0001 for the left side). Right and left inspiratory diaphragm motions were significantly inversely associated with age (p < 0.0001). Conclusion:This study describes the severity of diaphragm dysfunction in patients with DMD. Diaphragm US may be a non-invasive outcome measure for DMD.

Keywords: Duchenne muscular dystrophy, diaphragm failure, ultrasound

DOI: 10.3233/JND-180326

Journal: Journal of Neuromuscular Diseases, vol. 6, no. 1, pp. 55-64, 2019