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

dc.contributor.author

Horvath, Jeffrey J

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Austin, Stephanie L

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Case, Laura E

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Greene, Karla B

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Jones, Harrison N

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Soher, Brian J

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Kishnani, Priya S

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Bashir, Mustafa R

dc.date.accessioned

2023-05-02T13:31:51Z

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2023-05-02T13:31:51Z

dc.date.issued

2015-05

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2023-05-02T13:31:50Z

dc.description.abstract

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.
dc.identifier.issn

0148-639X

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1097-4598

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https://hdl.handle.net/10161/27309

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eng

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Wiley

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Muscle & nerve

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10.1002/mus.24437

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Muscle, Skeletal

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Humans

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Muscle Weakness

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Glycogen Storage Disease Type II

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Magnetic Resonance Imaging

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Physical Examination

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Severity of Illness Index

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Sensitivity and Specificity

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Case-Control Studies

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Pilot Projects

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Adolescent

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Adult

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Aged

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Middle Aged

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Female

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Male

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Whole Body Imaging

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Muscle Strength

dc.title

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

dc.type

Journal article

duke.contributor.orcid

Case, Laura E|0000-0002-2941-2186

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Jones, Harrison N|0000-0002-4171-980X

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Kishnani, Priya S|0000-0001-8251-909X

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Bashir, Mustafa R|0000-0001-8800-5057

pubs.begin-page

722

pubs.end-page

730

pubs.issue

5

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Duke

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School of Medicine

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Basic Science Departments

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Clinical Science Departments

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Institutes and Centers

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Molecular Genetics and Microbiology

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Medicine

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Orthopaedic Surgery

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Pediatrics

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Radiology

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Medicine, Gastroenterology

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Pediatrics, Medical Genetics

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Radiology, Abdominal Imaging

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Duke Cancer Institute

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Duke Clinical Research Institute

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Institutes and Provost's Academic Units

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Duke-UNC Center for Brain Imaging and Analysis

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Initiatives

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Orthopaedic Surgery, Physical Therapy

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Duke Innovation & Entrepreneurship

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Head and Neck Surgery & Communication Sciences

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Published

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51

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