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Broadening the imaging phenotype of dysferlinopathy at different disease stages
Author(s) -
Díaz Jorge,
Woudt Lisanne,
Suazo Lionel,
Garrido Cristián,
Caviedes Pablo,
CÁrdenas Ana M.,
Castiglioni Claudia,
Bevilacqua Jorge A.
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25045
Subject(s) - medicine , thigh , posterior compartment of thigh , trunk , anatomy , magnetic resonance imaging , dysferlin , motor function , pathology , radiology , physical medicine and rehabilitation , skeletal muscle , biology , ecology
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