title: Muscle MRI findings in facioscapulohumeral muscular dystrophy.
abstract: OBJECTIVE
  Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations.
  
  
  METHODS
  Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD).
  
  
  RESULTS
  In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients.
  
  
  CONCLUSIONS
  In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease.
  
  
  CONCLUSIONS
  Muscle MRI identifies a specific pattern of muscle involvement in FSHD patients. Muscle MRI may predict FSHD in asymptomatic and severely affected patients. Muscle MRI of upper girdle better predicts FSHD. Muscle MRI may differentiate FSHD from other forms of muscular dystrophy. Muscle MRI may show the involvement of non-clinical testable muscles.
authors.affiliation: Neuroradiology Unit, Head and Neck Department, IRCCS San Raffaele Scientific Institute, Milan, Italy. simonetta.gerevini@hsr.it.
authors.forename: Simonetta
authors.initials: S
authors.lastname: Gerevini
authors.affiliation: Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Scarlato
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Maggi
authors.affiliation: Department of Radiology and Center for Experimental Imaging, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Cava
authors.affiliation: Neuroradiology Unit, Head and Neck Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Caliendo
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pasanisi
authors.affiliation: Neuroradiology Unit, Head and Neck Department, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Falini
authors.affiliation: Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. previtali.stefano@hsr.it.
authors.forename: Stefano Carlo
authors.initials: SC
authors.lastname: Previtali
authors.affiliation: Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. lucia.morandi@istituto-besta.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D001284:Atrophy; D003937:Diagnosis, Differential; D004487:Edema / Q000473:pathology; D005260:Female; D006801:Humans; D064169:Intermediate Back Muscles / Q000473:pathology; D035002:Lower Extremity / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology*; D009136:Muscular Dystrophies / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000473:pathology* / Q000503:physiopathology; D050151:Subcutaneous Fat / Q000473:pathology; D064171:Superficial Back Muscles / Q000473:pathology; D051598:Whole Body Imaging / Q000379:methods; D055815:Young Adult
keywords: Atrophy; FSHD; MR imaging; Muscle; Muscular dystrophy