Broadening the imaging phenotype of dysferlinopathy at different disease stages

• Published in: Muscle & nerve Vol. 54; no. 2; pp. 203 - 210
• Main Authors: Díaz, Jorge, Woudt, Lisanne, Suazo, Lionel, Garrido, Cristián, Caviedes, Pablo, CÁrdenas, Ana M., Castiglioni, Claudia, Bevilacqua, Jorge A.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2016; Wiley Subscription Services, Inc
• Subjects: Adolescent; Child; clinical trials; Developmental Disabilities - diagnostic imaging; Developmental Disabilities - etiology; dysferlinopathy; Female; Genotype & phenotype; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; motor function measure; MRI; muscle disease; Muscle, Skeletal - diagnostic imaging; Muscular Dystrophies, Limb-Girdle - diagnostic imaging; Muscular Dystrophies, Limb-Girdle - physiopathology; Retrospective Studies; Statistics, Nonparametric; Whole Body Imaging; whole-body MRI; Young Adult; motor function measure; clinical trials; MRI; muscle disease; whole-body MRI; dysferlinopathy
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.25045

ABSTRACT Introduction 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. Methods: 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. Results: 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. Conclusions: 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