Abstract #1580

Whole-body MRI in facioscapulohumeral muscular dystrophy: Preliminary results

Doris G. Leung^1,2, Li Pan³, John A. Carrino⁴, Kathryn R. Wagner^1,2, and Michael A. Jacobs^5,6

¹Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, United States, ²Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, United States, ³Siemens Healthcare, Baltimore, MD, United States, ⁴Radiology and Imaging, Hospital for Special Surgery, New York, NY, United States, ⁵Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, United States, ⁶Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD, United States

Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Whole-body MRI (WBMRI) was used to scan 24 adults with genetically-confirmed type 1 FSHD. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared to muscle strength and function measurements. Our analysis reveals a distinctive pattern of muscle involvement and sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs were statistically significantly associated with quantitative muscle strength and 10-meter walk time. We conclude that WBMRI offers a promising disease biomarker in FSHD and other muscular dystrophies.

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