Broadening the imaging phenotype of dysferlinopathy at different disease stages
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...
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Published in | Muscle & nerve Vol. 54; no. 2; pp. 203 - 210 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Blackwell Publishing Ltd
01.08.2016
Wiley Subscription Services, Inc |
Subjects | |
Online Access | Get full text |
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Summary: | 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 |
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Bibliography: | istex:F4D277831124C5FF148DE9C1F0CFAF09BC3ED45C Vicerrectoría de Investigación y Desarrollo, Universidad de Chile - No. ENL15/14 ark:/67375/WNG-8HCNQTLP-C ArticleID:MUS25045 Comisión Nacional de Investigación Científica y Tecnología de Chile (CONICYT) - No. FONDECYT#1110159; No. FONDECYT#1151383; No. #ACT1121 Disclosures Dysferlin Conference with support from Jain Foundation Inc. th and 7 Funding Supported by Grant FONDECYT#1110159, FONDECYT#1151383 and Grant Anillos #ACT1121 from the Comisión Nacional de Investigación Científica y Tecnología de Chile (CONICYT), Grant ENL15/14, from the Vicerrectoría de Investigación y Desarrollo, Universidad de Chile. J. Díaz, L. Woudt, L. Suazo, C. Garrido, P. Caviedes, A. Cárdenas, and C. Castiglioni report no disclosures. Dr. Bevilacqua serves as Medical Advisor for neuromuscular diseases and myology for Genzyme Chile; and as Consultant and Coordinator of the Chilean Pompe Registry, GENZYME Chile Ltda. and has been invited to the 6 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0148-639X 1097-4598 |
DOI: | 10.1002/mus.25045 |