TY - JOUR
T1 - Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function
AU - Figueroa-Bonaparte, Sebastián
AU - Segovia, Sonia
AU - Llauger, Jaume
AU - Belmonte, Izaskun
AU - Pedrosa, Irene
AU - Alejaldre, Aída
AU - Mayos, Mercè
AU - Suárez-Cuartín, Guillermo
AU - Gallardo, Eduard
AU - Illa, Isabel
AU - Díaz-Manera, Jordi
AU - Barba-Romero, Miguel Angel
AU - Barcena, Joseba
AU - Carbonell, Pilar
AU - Carzorla, María Rosario
AU - Creus, Carlota
AU - Coll-Cantí, Jaume
AU - Díaz, Manuel
AU - Domínguez, Cristina
AU - Torrón, Roberto Fernández
AU - Antelo, María José García
AU - Grau, Josep Maria
AU - DeMunáin, Adolfo López
AU - Martínez-García, Francisco Antonio
AU - Morgado, Yolanda
AU - Moreno, Antonio
AU - Morís, Germán
AU - Muñoz-Blanco, Miguel Angel
AU - Nascimento, Andres
AU - Pozo, José Luis Parajuá
AU - Robledo-Strauss, Arturo
AU - Rojas-Marcos, Íñigo
AU - Salazar, Jose António
AU - Usón, Mercedes
PY - 2016/10/1
Y1 - 2016/10/1
N2 - © 2016 Figueroa-Bonaparte et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Objectives: Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. Methods: We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region. Results: T1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients. Conclusion: Based on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment. Take home message: Muscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.
AB - © 2016 Figueroa-Bonaparte et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Objectives: Enzyme replacement therapy has shown to be effective for childhood/adult onset Pompe disease (AOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. Muscle MRI could be one possible test but the correlation between muscle MRI and muscle strength and function has been only partially addressed so far. Methods: We studied 34 AOPD patients using functional scales (Manual Research Council scale, hand held myometry, 6 minutes walking test, timed to up and go test, time to climb up and down 4 steps, time to walk 10 meters and Motor Function Measure 20 Scale), respiratory tests (Forced Vital Capacity seated and lying, Maximun Inspiratory Pressure and Maximum Expiratory Pressure), daily live activities scales (Activlim) and quality of life scales (Short Form-36 and Individualized Neuromuscular Quality of Life questionnaire). We performed a whole body muscle MRI using T1w and 3-point Dixon imaging centered on thighs and lower trunk region. Results: T1w whole body muscle MRI showed a homogeneous pattern of muscle involvement that could also be found in pre-symptomatic individuals. We found a strong correlation between muscle strength, muscle functional scales and the degree of muscle fatty replacement in muscle MRI analyzed using T1w and 3-point Dixon imaging studies. Moreover, muscle MRI detected mild degree of fatty replacement in paraspinal muscles in pre-symptomatic patients. Conclusion: Based on our findings, we consider that muscle MRI correlates with muscle function in patients with AOPD and could be useful for diagnosis and follow-up in pre-symptomatic and symptomatic patients under treatment. Take home message: Muscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.
U2 - 10.1371/journal.pone.0163493
DO - 10.1371/journal.pone.0163493
M3 - Article
VL - 11
IS - 10
M1 - e0163493
ER -