RT Journal Article
T1 Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function
A1 Figueroa-Bonaparte, Sebastian
A1 Segovia, Sonia
A1 Llauger, Jaume
A1 Belmonte, Izaskun
A1 Pedrosa, Irene
A1 Alejaldre, Aida
A1 Mayos, Merce
A1 Suarez-Cuartin, Guillermo
A1 Gallardo, Eduard
A1 Illa, Isabel
A1 Diaz-Manera, Jordi
A1 Spanish Pompe Study Grp, 
K1 Duchenne muscular-dystrophy
K1 Enzyme replacement therapy
K1 Alglucosidase alpha
K1 Involvement
K1 Progression
K1 Myopathies
K1 Guidelines
K1 Patterns
K1 Dixon
K1 Boys
AB ObjectivesEnzyme 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.MethodsWe 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.ResultsT1w 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.ConclusionBased 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 messageMuscle MRI correlates with muscle function in patients with AOPD and could be useful to follow-up patients in daily clinic.
PB Public library science
SN 1932-6203
YR 2016
FD 2016-10-06
LK https://hdl.handle.net/10668/24591
UL https://hdl.handle.net/10668/24591
LA en
DS RISalud
RD Apr 6, 2025