title: Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials.
abstract: OBJECTIVE
  Therapeutic perspectives have brought attention to the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. We aimed to analyze the type and extent of muscle involvement on magnetic resonance imaging (MRI) in a large cohort of patients representative of the broad clinical spectrum of this disease.
  
  
  METHODS
  Pelvic and lower limb muscle MRI scans of 269 symptomatic individuals and 19 nonpenetrant gene carriers were assessed. Comparative analysis of the upper girdle scan in 181 of these subjects was also performed.
  
  
  RESULTS
  We found a peculiar susceptibility and resistance of particular muscles. Combined involvement of abdominal and hamstring muscles with iliopsoas sparing is common in facioscapulohumeral muscular dystrophy (67% of the patients). Adductor longus and/or rectus femoris, whose involvement can go clinically undetected, are often typically affected in early disease (69% of patients younger than 45 years). The extent of lesions on lower limb MRI showed a high correlation with overall clinical severity. One-fourth of the nonpenetrant gene carriers showed abnormalities on MRI. Hyperintensities on short-tau inversion recovery sequences, markers of active disease, were found in muscles without signs of fatty replacement in 35% of patients, representing early lesions.
  
  
  CONCLUSIONS
  Our large-scale cross-sectional data provide preliminary evidence for the usefulness of MRI in clinical trials, and set the baseline for longitudinal studies. Muscle MRI can also be used for distinguishing facioscapulohumeral muscular dystrophy from other myopathies in selected cases. Finally, our results are consistent with a model that configures facioscapulohumeral muscular dystrophy as a "muscle-by-muscle" disease. Ann Neurol 2016;79:854-864.
authors.affiliation: Don Carlo Gnocchi Onlus Foundation, Milan.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Tasca
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Rome.
authors.forename: Mauro
authors.initials: M
authors.lastname: Monforte
authors.affiliation: Department of Radiology, IDI Care and Research Institute, Rome.
authors.forename: Pierfrancesco
authors.initials: P
authors.lastname: Ottaviani
authors.affiliation: Italian Union against Muscular Dystrophy (UILDM), Rome Section, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Pelliccioni
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Rome.
authors.forename: Roberto
authors.initials: R
authors.lastname: Frusciante
authors.affiliation: Department of Radiology, IDI Care and Research Institute, Rome.
authors.forename: Francesco
authors.initials: F
authors.lastname: Laschena
authors.affiliation: Institute of Neurology, Catholic University School of Medicine, Rome.
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci