title: Broadening the imaging phenotype of dysferlinopathy at different disease stages.
abstract: MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction.
  
  
  
  Sequential whole-body axial MRI was performed in 27 patients with genetically confirmed dysferlinopathy classified according to disease duration. Spearman correlations of fatty infiltration scores versus Motor Function Measure (MFM) were calculated.
  
  
  
  Significant fatty infiltration was symmetrically present in early stages mainly in the posterior compartments of legs and thighs, thigh adductors, pelvic girdle, and some paravertebral muscles and the subscapularis. Later, fatty infiltration involved leg and thigh anterior compartments, arms and forearms, paravertebral, and trunk muscles. MRI infiltration score correlated positively with disease duration and negatively with MFM scale.
  
  
  
  We expand MRI characterization of dysferlinopathy and provide evidence for use of MRI scoring combined with motor functional scales to assess the natural course of disease. Muscle Nerve, 2016 Muscle Nerve 54: 203-210, 2016.
authors.affiliation: Centro de Imagenología, Hospital Clínico Universidad de Chile, Santiago, Chile.
authors.forename: Jorge
authors.initials: J
authors.lastname: Díaz
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile (HCUCH), Santos Dumont 999, 2 º piso, Sector E. Independencia, 8380456, Santiago, Chile.
authors.forename: Lisanne
authors.initials: L
authors.lastname: Woudt
authors.affiliation: Centro de Imagenología, Hospital Clínico Universidad de Chile, Santiago, Chile.
authors.forename: Lionel
authors.initials: L
authors.lastname: Suazo
authors.affiliation: Centro de Imagenología, Hospital Clínico Universidad de Chile, Santiago, Chile.
authors.forename: Cristián
authors.initials: C
authors.lastname: Garrido
authors.affiliation: Programa de Farmacología Molecular y Clínica, ICBM, Facultad de Medicina, Universidad de Chile.
authors.forename: Pablo
authors.initials: P
authors.lastname: Caviedes
authors.affiliation: Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.
authors.forename: Ana M
authors.initials: AM
authors.lastname: CÁrdenas
authors.affiliation: Unidad de Neurología, Departamento de Pediatría, Clínica Las Condes, Santiago, Chile.
authors.forename: Claudia
authors.initials: C
authors.lastname: Castiglioni
authors.affiliation: Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile (HCUCH), Santos Dumont 999, 2 º piso, Sector E. Independencia, 8380456, Santiago, Chile.|Programa Anatomía y Biología del Desarrollo, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Jorge A
authors.initials: JA
authors.lastname: Bevilacqua
mesh_terms: D000293:Adolescent; D002648:Child; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000209:etiology; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D051598:Whole Body Imaging; D055815:Young Adult
keywords: MRI; clinical trials; dysferlinopathy; motor function measure; muscle disease; whole-body MRI