Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016.


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.

MeSH terms

  • Adult
  • Aged
  • Child
  • Female
  • Glycogen Storage Disease Type II / diagnostic imaging*
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / physiopathology*
  • Humans
  • Image Processing, Computer-Assisted
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Muscle Strength
  • Muscles / diagnostic imaging*
  • Muscles / physiopathology*
  • Respiration
  • Whole Body Imaging
  • Young Adult

Grants and funding

This work was supported by a grant from Genzyme to JDM ( and a grant from the Spanish Ministry of Health, FISS PI15/01822 to JDM. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.