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.
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.
Authors: Sarah Schlaeger; Stephanie Inhuber; Alexander Rohrmeier; Michael Dieckmeyer; Friedemann Freitag; Elisabeth Klupp; Dominik Weidlich; Georg Feuerriegel; Florian Kreuzpointner; Ansgar Schwirtz; Ernst J Rummeny; Claus Zimmer; Jan S Kirschke; Dimitrios C Karampinos; Thomas Baum Journal: Eur Radiol Date: 2018-07-16 Impact factor: 5.315
Authors: Daniel A Morris; Daniela Blaschke; Alice Krebs; Sima Canaan-Kühl; Ursula Plöckinger; Gesine Knobloch; Thula C Walter; York Kühnle; Leif-Hendrik Boldt; Elisabeth Kraigher-Krainer; Burkert Pieske; Wilhelm Haverkamp Journal: Int J Cardiovasc Imaging Date: 2015-03-06 Impact factor: 2.357
Authors: Adrian G Todd; Jessica A McElroy; Robert W Grange; David D Fuller; Glenn A Walter; Barry J Byrne; Darin J Falk Journal: Ann Neurol Date: 2015-06-30 Impact factor: 10.422
Authors: Kai Michael Gruhn; Christoph Malte Heyer; Anne-Katrin Güttsches; Robert Rehmann; Volkmar Nicolas; Tobias Schmidt-Wilcke; Martin Tegenthoff; Matthias Vorgerd; Rudolf Andre Kley Journal: Mol Genet Metab Rep Date: 2015-04-21
Authors: Thomas Baum; Stephanie Inhuber; Michael Dieckmeyer; Christian Cordes; Stefan Ruschke; Elisabeth Klupp; Pia M Jungmann; Rosanna Farlock; Holger Eggers; Hendrik Kooijman; Ernst J Rummeny; Ansgar Schwirtz; Jan S Kirschke; Dimitrios C Karampinos Journal: J Comput Assist Tomogr Date: 2016 May-Jun Impact factor: 1.826