Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. P...

Descripción completa

Detalles Bibliográficos
Autores: Reyes-Leiva, David|||0000-0001-6983-7130, Alonso Pérez, Jorge|||0000-0001-8866-5186, Mayos, Merce|||0000-0003-3972-3671, Nuñez Peralta, Claudia Alejandra|||0000-0002-3235-0799, Llauger, Jaume|||0000-0002-3744-3257, Belmonte Jimeno, Izaskun|||0000-0003-0930-6586, Pedrosa Hernández, Irene, Segovia, Sonia, Diaz-Manera, Jordi|||0000-0003-2941-7988
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:237949
Acceso en línea:https://ddd.uab.cat/record/237949
https://dx.doi.org/urn:doi:10.3389/fneur.2021.621257
Access Level:acceso abierto
Palabra clave:Pompe disease
Glycogen storage disease type II
MRI
Muscular MRI
Respiratory insufficiency
Accessory respiratory muscles
Diaphragm pillars
Descripción
Sumario:Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. Previous studies have shown that replacement by fat correlates with worse results of muscle function tests. Our aim was to investigate if fat replacement of muscles involved in the ventilation process correlated with results of the spirometry and predicted respiratory muscle impairment in LOPD patients over time. Materials and Methods: We studied a cohort of 36 LOPD patients followed up annually in our center for a period of 4 years. We quantified muscle fat replacement using Mercuri score of the thoracic paraspinal and abdominal muscles and the pillars of the diaphragm. We correlated the combined Mercuri scores of these areas with spirometry results and the need of respiratory support. Results: We found a statistically significant correlation (Spearman test, p < 0.05; coefficient of correlation.

Similares en LA Referencia