title: Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
abstract: BACKGROUND
  As we move toward planning for clinical trials in facioscapulohumeral muscular dystrophy (FSHD), a better understanding of the clinical relationship with morphological changes in FSHD muscle biopsies will be important for stratifying patients and understanding post-therapeutic changes in muscle.
  
  
  METHODS
  We performed a prospective cross-sectional study of quadriceps muscle biopsies in 74 genetically confirmed FSHD participants (64 with FSHD type 1 and 10 with FSHD type 2). We compared a 12-point muscle pathology grade to genetic mutation, disease severity score, and quantitative myometry.
  
  
  RESULTS
  Pathology grade had moderate correlations with genetic mutation (rho = -0.45, P < 0.001), clinical severity score (rho = 0.53, P < 0.001), disease duration (rho = 0.31, P = 0.03), and quantitative myometry (rho = -0.47, P < 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2.
  
  
  CONCLUSIONS
  The pathology grade of quadriceps muscle may be a useful marker of disease activity in FSHD, and it may have a role in stratification for future clinical trials.
authors.affiliation: Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.|Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Statland
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
authors.forename: Bharati
authors.initials: B
authors.lastname: Shah
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
authors.forename: Don
authors.initials: D
authors.lastname: Henderson
authors.affiliation: Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Silvere
authors.initials: S
authors.lastname: Van Der Maarel
authors.affiliation: Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Tapscott
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001707:Biopsy, Needle; D015704:CD4 Antigens; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000473:pathology*; D011446:Prospective Studies; D016059:Range of Motion, Articular; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015704:CD4 Antigens
keywords: DUX4; clinical trials; facioscapulohumeral muscular dystrophy; muscle pathology; pathology grade