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Correlation between quantitative whole‐body muscle magnetic resonance imaging and clinical muscle weakness in pompe disease
Author(s) -
Horvath Jeffrey J.,
Austin Stephanie L.,
Case Laura E.,
Greene Karla B.,
Jones Harrison N.,
Soher Brian J.,
Kishnani Priya S.,
Bashir Mustafa R.
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24437
Subject(s) - magnetic resonance imaging , physical examination , medicine , muscle weakness , abnormality , skeletal muscle , radiology , psychiatry
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. Muscle Nerve 51 :722–730, 2015