title: Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.
abstract: BACKGROUND
  Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity.
  
  
  METHODS
  Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD; and upper and lower extremity scans from 34 subjects with FSHD who participated in the MYO-029 clinical trial. Muscles were scored for fat infiltration and edema-like changes. Fat infiltration scores were compared with muscle strength and function.
  
  
  RESULTS
  The analysis revealed a distinctive pattern of both frequent muscle involvement and frequent sparing in FSHD. Averaged fat infiltration scores for muscle groups in the legs correlated with quantitative muscle strength and 10-meter walk times.
  
  
  CONCLUSIONS
  Advances in MRI technology allow for acquisition of rapid, high-quality, whole-body imaging in diffuse muscle disease. This technique offers a promising disease biomarker in FSHD and other muscle diseases.
authors: Center for Genetic Muscle Disorders, The Hugo W. Moser Research Institute, Kennedy Krieger Institute, 707 North Broadway, 400A, Baltimore, Maryland, 21205, USA.|Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: Doris G
authors: DG
authors: Leung
authors: Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Radiology and Imaging, Hospital for Special Surgery, New York, New York, USA.
authors: John A
authors: JA
authors: Carrino
authors: Center for Genetic Muscle Disorders, The Hugo W. Moser Research Institute, Kennedy Krieger Institute, 707 North Broadway, 400A, Baltimore, Maryland, 21205, USA.|Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: Kathryn R
authors: KR
authors: Wagner
authors: Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.|Sidney Kimmel Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: Michael A
authors: MA
authors: Jacobs
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005121:Extremities / Q000473:pathology; D005260:Female; D006801:Humans; D016014:Linear Models; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength; D018482:Muscle, Skeletal / Q000473:pathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis*; D012720:Severity of Illness Index; D051598:Whole Body Imaging; D055815:Young Adult
keywords: FSHD; MRI; facioscapulohumeral muscular dystrophy; radiographic biomarkers; whole-body imaging
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