Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Journal Article (Journal Article)

INTRODUCTION: Previous examination of whole-body muscle involvement in Pompe disease has been limited to physical examination and/or qualitative magnetic resonance imaging (MRI). In this study we assess the feasibility of quantitative proton-density fat-fraction (PDFF) whole-body MRI in late-onset Pompe disease (LOPD) and compare the results with manual muscle testing. METHODS: Seven LOPD patients and 11 disease-free controls underwent whole-body PDFF MRI. Quantitative MR muscle group assessments were compared with physical testing of muscle groups. RESULTS: The 95% upper limits of confidence intervals for muscle groups were 4.9-12.6% in controls and 6.8-76.4% in LOPD patients. LOPD patients showed severe and consistent tongue and axial muscle group involvement, with less marked involvement of peripheral musculature. MRI was more sensitive than physical examination for detection of abnormality in multiple muscle groups. CONCLUSION: This integrated, quantitative approach to muscle assessment provides more detailed data than physical examination and may have clinical utility for monitoring disease progression and treatment response.

Full Text

Duke Authors

Cited Authors

  • Horvath, JJ; Austin, SL; Case, LE; Greene, KB; Jones, HN; Soher, BJ; Kishnani, PS; Bashir, MR

Published Date

  • May 2015

Published In

Volume / Issue

  • 51 / 5

Start / End Page

  • 722 - 730

PubMed ID

  • 25155446

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

Digital Object Identifier (DOI)

  • 10.1002/mus.24437


  • eng

Conference Location

  • United States