ArticleOrphanet journal of rare diseases2021
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 14 citations in OpenAlex.
- Real-Time MRI With Deep Learning for Efficient Evaluation of Neuromuscular Breathing Impairment.MedComm · 2026Article
- Predictors of respiratory decline in neuromuscular disorders.Respiratory medicine · 2026Review
- Evaluation of respiratory muscle dysfunction in patients with idiopathic pulmonary fibrosis: a prospective observational study with magnetic resonance imaging.BMC pulmonary medicine · 2025Observational
- Chest Dynamic MRI as Early Biomarker of Respiratory Impairment in Amyotrophic Lateral Sclerosis Patients: A Pilot Study.Journal of clinical medicine · 2024Article
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Characteristics of Diaphragmatic and Chest Wall Motion in People with Normal Pulmonary Function: A Study with Free-Breathing Dynamic MRI.Journal of clinical medicine · 2022Article
- MRI changes in diaphragmatic motion and curvature in Pompe disease over time.European radiology · 2022Article
- Three-dimensional ultrashort echo time magnetic resonance imaging in assessment of idiopathic pulmonary fibrosis, in comparison with high-resolution computed tomography.Quantitative imaging in medicine and surgery · 2022Article
- The influence of mouth opening on pharyngeal pressure loss and its underlying mechanism: A computational fluid dynamic analysis.Frontiers in bioengineering and biotechnology · 2022Article
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn Pompe disease, an inherited metabolic muscle disorder, severe diaphragmatic weakness often occurs. Enzyme replacement treatment is relatively ineffective for respiratory function, possibly because of irreversible damage to the diaphragm early in the disease course. Mildly impaired diaphragmatic function may not be recognized by spirometry, which is commonly used to study respiratory function. In this cross-sectional study, we aimed to identify early signs of diaphragmatic weakness in Pompe patients using chest MRI.
methodsPompe patients covering the spectrum of disease severity, and sex and age matched healthy controls were prospectively included and studied using spirometry-controlled sagittal MR images of both mid-hemidiaphragms during forced inspiration. The motions of the diaphragm and thoracic wall were evaluated by measuring thoracic cranial-caudal and anterior-posterior distance ratios between inspiration and expiration. The diaphragm shape was evaluated by measuring the height of the diaphragm curvature. We used multiple linear regression analysis to compare different groups.
resultsWe included 22 Pompe patients with decreased spirometry results (forced vital capacity in supine position < 80% predicted); 13 Pompe patients with normal spirometry results (forced vital capacity in supine position ≥ 80% predicted) and 18 healthy controls. The mean cranial-caudal ratio was only 1.32 in patients with decreased spirometry results, 1.60 in patients with normal spirometry results and 1.72 in healthy controls (p < 0.001). Anterior-posterior ratios showed no significant differences. The mean height ratios of the diaphragm curvature were 1.41 in patients with decreased spirometry results, 1.08 in patients with normal spirometry results and 0.82 in healthy controls (p = 0.001), indicating an increased curvature of the diaphragm during inspiration in Pompe patients.
conclusionsEven in early-stage Pompe disease, when spirometry results are still within normal range, the motion of the diaphragm is already reduced and the shape is more curved during inspiration. MRI can be used to detect early signs of diaphragmatic weakness in patients with Pompe disease, which might help to select patients for early intervention to prevent possible irreversible damage to the diaphragm.
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