Laura Tufano
Muscle MRI as a biomarker of disease activity and progression in Myotonic Dystrophy type 1: a longitudinal study
Autori
- LAURA TUFANO (DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, ROME, ITALY – NEUROLOGIA)
- ELISABETTA BUCCI (NEUROMUSCULAR AND RARE DISEASE CENTRE, NEUROLOGY UNIT, SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGIA)
- GIOVANNI ANTONINI (NEUROMUSCULAR AND RARE DISEASE CENTRE, NEUROLOGY UNIT, SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGIA)
- LUCA LEONARDI (NEUROMUSCULAR AND RARE DISEASE CENTRE, NEUROLOGY UNIT, SANT’ANDREA HOSPITAL, ROME, ITALY – NEUROLOGIA)
- MATTEO GARIBALDI (DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, ROME, ITALY – NEUROLOGIA)
Presentatore
LAURA TUFANO (DEPARTMENT OF NEUROSCIENCE, MENTAL HEALTH AND SENSORY ORGANS (NESMOS), SAPIENZA UNIVERSITY OF ROME, ROME, ITALY)
Modalità
Oral Communication
Abstract
“Myotonic Dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. The aim of this study was to investigate the usefulness of longitudinal muscle MRI in detecting disease activity and progression in DM1, and to better characterize muscle edema, fat replacement and atrophy overtime.
This is a prospective, observational, longitudinal study including DM1 patients that performed at least two muscle MRIs. Demographic and genetic characteristics were recorded. Muscular Impairment Rating Scale (MIRS) was performed within three months from MRIs at baseline (BL) and at follow-up (FU). We analysed 32 muscles of lower body and 17 muscles of upper body by T1 and STIR sequences. T1-, STIR- and atrophy-scores and their variations were evaluated. Correlations between MRIs’ scores and demographic, clinical and genetic characteristics were analysed.
Twenty-five patients (13M/12F), with a median age of 27 years were included. Median FU duration was 37 months. Mean T1-score progression was 3,1% while mean atrophy-score progression was 4%. T1 progression was more evident in lower body while atrophy in upper body. 46,8% of STIR-positive muscles (versus 10,2% of STIR-negative muscles) at BL showed some degree of T1-score progression at FU. Of 337 T1-progressed muscle, 30,2% were STIR-positive at the BL and 21,1% STIR-positive at FU. STIR and T1 scores correlated with clinical data.
Muscle MRI represents a sensitive biomarker of disease activity, severity, and progression in DM1. STIR alterations precede fat replacement, while T1 progression and atrophy reveal disease progression before clinical worsening.”