Paolo Ruggeri1, Lucia Lo Monaco2, Olimpia Musumeci3, Graziana Tavilla3, Michele Gaeta4, Gaetano Caramori2, Antonio Toscano3. 1. Unità Operativa Complessa di Pneumologia, Dipartimento di Scienze Biomediche, Odontoiatriche e delle Immagini Morfologiche e Funzionali (BIOMORF), Università di Messina, Messina, Italy. plrugger@unime.it. 2. Unità Operativa Complessa di Pneumologia, Dipartimento di Scienze Biomediche, Odontoiatriche e delle Immagini Morfologiche e Funzionali (BIOMORF), Università di Messina, Messina, Italy. 3. Unità Operativa Complessa di Neurologia e Malattie Neuromuscolari, Dipartimento di Medicina Clinica e Sperimentale, Università di Messina, Messina, Italy. 4. Unità Operativa Complessa di Radiologia, Dipartimento di Scienze Biomediche, Odontoiatriche e delle Immagini Morfologiche e Funzionali (BIOMORF), Università di Messina, Messina, Italy.
Abstract
INTRODUCTION: Late-Onset Pompe Disease (LOPD) is characterized by progressive limb-girdle muscle weakness and respiratory dysfunction. Diaphragm is the most impaired muscle in LOPD and its dysfunction cause major respiratory symptoms. The aim of this study was to evaluate the correlation between diaphragm thickness and mobility assessed by ultrasonography and respiratory function and muscle strength tests in patients with LOPD. METHODS: 17 patients with LOPD (9 female, 47 ± 15 years) and 17 age and gender-matched healthy controls underwent spirometry, muscle strength testing, and ultrasound evaluation of diaphragm excursion and thickness. RESULTS: The following parameters were significantly reduced in LOPD patients versus controls (all p < 0.001): forced vital capacity (FVC) in seated and supine position, maximum inspiratory and expiratory pressure (MIP and MEP), diaphragm excursion, thickness at functional residual capacity (FRC) and total lung capacity (TLC), and thickness fraction (TF). Ultrasound studies of diaphragm thickness at FRC correlated with MIP (r = 0.74; p < 0.0001) and seated FVC(r = 0.73; p < 0.05). Diaphragm thickness at TLC correlated with MIP (r = 0.85; p < 0.0001) and FVC in both seated (r = 0.77; p < 0.0001) and supine position (r = 0.68; p < 0.05). TF correlated significantly with MIP (r = 0.80; p < 0.001), FVC in both seated (r = 0.66; p < 0,005) and supine position (r = 0.61; p < 0.05). Interestingly diaphragm thickness at FRC correlated with disease duration (years) in LOPD patients (r = -0.53; p < 0,05). Ultrasound diaphragm mobility correlated with diaphragm thickness at TLC(r = 0.87; p < 0.0001), FRC (r = 0.84; p < 0.005) and TF (r = 0.73; p < 0.05). Moreover diaphragm mobility correlated with FVC in seated(r = 0.79; p < 0.005) and supine position(r = 0.74; p < 0.05) and MIP (r = 0.81; p < 0.005). CONCLUSION: Diaphragm ultrasonography is a simple and reproducible technique for manage respiratory dysfunction in LOPD patients.
INTRODUCTION: Late-Onset Pompe Disease (LOPD) is characterized by progressive limb-girdle muscle weakness and respiratory dysfunction. Diaphragm is the most impaired muscle in LOPD and its dysfunction cause major respiratory symptoms. The aim of this study was to evaluate the correlation between diaphragm thickness and mobility assessed by ultrasonography and respiratory function and muscle strength tests in patients with LOPD. METHODS: 17 patients with LOPD (9 female, 47 ± 15 years) and 17 age and gender-matched healthy controls underwent spirometry, muscle strength testing, and ultrasound evaluation of diaphragm excursion and thickness. RESULTS: The following parameters were significantly reduced in LOPD patients versus controls (all p < 0.001): forced vital capacity (FVC) in seated and supine position, maximum inspiratory and expiratory pressure (MIP and MEP), diaphragm excursion, thickness at functional residual capacity (FRC) and total lung capacity (TLC), and thickness fraction (TF). Ultrasound studies of diaphragm thickness at FRC correlated with MIP (r = 0.74; p < 0.0001) and seated FVC(r = 0.73; p < 0.05). Diaphragm thickness at TLC correlated with MIP (r = 0.85; p < 0.0001) and FVC in both seated (r = 0.77; p < 0.0001) and supine position (r = 0.68; p < 0.05). TF correlated significantly with MIP (r = 0.80; p < 0.001), FVC in both seated (r = 0.66; p < 0,005) and supine position (r = 0.61; p < 0.05). Interestingly diaphragm thickness at FRC correlated with disease duration (years) in LOPD patients (r = -0.53; p < 0,05). Ultrasound diaphragm mobility correlated with diaphragm thickness at TLC(r = 0.87; p < 0.0001), FRC (r = 0.84; p < 0.005) and TF (r = 0.73; p < 0.05). Moreover diaphragm mobility correlated with FVC in seated(r = 0.79; p < 0.005) and supine position(r = 0.74; p < 0.05) and MIP (r = 0.81; p < 0.005). CONCLUSION: Diaphragm ultrasonography is a simple and reproducible technique for manage respiratory dysfunction in LOPD patients.
Authors: Ali Al Shehri; Abdullah Al-Asmi; Abdullah Mohammed Al Salti; Abubaker Almadani; Ali Hassan; Ahmed K Bamaga; Edward J Cupler; Jasem Al-Hashel; Majed M Alabdali; Mohammed H Alanazy; Suzan Noori Journal: J Neuromuscul Dis Date: 2022
Authors: Laurike Harlaar; Pierluigi Ciet; Gijs van Tulder; Alice Pittaro; Harmke A van Kooten; Nadine A M E van der Beek; Esther Brusse; Piotr A Wielopolski; Marleen de Bruijne; Ans T van der Ploeg; Harm A W M Tiddens; Pieter A van Doorn Journal: Orphanet J Rare Dis Date: 2021-01-07 Impact factor: 4.123
Authors: Jeroen L M van Doorn; Juerd Wijntjes; Christiaan G J Saris; Coen A C Ottenheijm; Nens van Alfen; Jonne Doorduin Journal: Muscle Nerve Date: 2022-06-09 Impact factor: 3.852