M.P.5.03 Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine

Abstract

The aim of the study was to evaluate the sensitivity and specificity of visual analysis of muscle MRI scans to identify specific patterns of muscle involvement. We assessed scans from 83 patients with muscular dystrophies characterized by rigidity of the spine and other clinically overlapping features, secondary to mutations in four different genes. The conditions studied were Rigid Spine syndrome 1 (RSMD1) due to mutations in the SEPN 1 gene, Bethlem myopathy and Ullrich congenital muscular dystrophy, allelic disorders due to Col6A gene mutations, autosomal dominant Emery Dreifuss muscular dystrophy (LMNA gene defects) and calpain deficient limb girdle muscular dystrophy (LGMD2A), due to mutations in CAPN3.