Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

In 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 f...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2021-01, Vol.16 (1), p.21-21, Article 21
Main Authors: Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, Pittaro, Alice, van Kooten, Harmke A, van der Beek, Nadine A M E, Brusse, Esther, Wielopolski, Piotr A, de Bruijne, Marleen, van der Ploeg, Ans T, Tiddens, Harm A W M, van Doorn, Pieter A
Format: Article
Language:English
Subjects:
Chest
Complications and side effects
Diagnosis
Diaphragm
Diaphragm (Anatomy)
Disease
Diseases
Enzymes
Glycogenosis
Lysosomal storage disease
Magnetic resonance imaging
Medical examination
Medical research
Metabolism
MRI
Musculoskeletal system
Neuromuscular disease
Open source software
Patients
Pompe disease
Rare diseases
Respiration
Respiratory function
Skull
Spirometry
Thorax
Ventilation
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Summary:In 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. Pompe 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. We included 22 Pompe patients with decreased spirometry results (forced vital capacity in supine position
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-020-01627-x