Sara Bortolani
Muscle MRI findings in Italian patients with myofibrillar and distal myopathies: an exploratory analysis from ITA-MeD.
Autori
- SARA BORTOLANI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY; 2) DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY; 2) DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY. – NEUROLOGIA)
- SILVIA BONANNO (3) NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FOUNDATION IRCCS NEUROLOGICAL INSTITUTE CARLO BESTA, MILANO, ITALY. – )
- MATTEO LUCCHINI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- SABRINA RAVAGLIA ( – )
- GUIDO PRIMIANO (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- AMALIA LUPI ( – )
- MARIA LUCIA VALENTINO ( – )
- ANTONIO PETRUCCI ( – )
- MARCO MOSCATELLI (3)NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FOUNDATION IRCCS NEUROLOGICAL INSTITUTE CARLO BESTA, MILANO, ITALY. – )
- DIEGO LOPERGOLO ( – )
- MATTEO GARIBALDI ( – )
- MAURO MONFORTE (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- CRISTINA SANCRICCA ( – )
- PIETRO RIGUZZI ( – )
- LUCA BELLO ( – )
- ELENA PEGORARO ( – )
- ELEONORA TORCHIA ( – )
- ALESSANDRO MALANDRINI ( – )
- ROCCO LIGUORI ( – )
- TIZIANA ENRICA MONGINI (2) DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY. – )
- MASSIMILIANO MIRABELLA (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- SERENELLA SERVIDEI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- ENZO RICCI (DIPARTIMENTO DI NEUROSCIENZE, ORGANI DI SENSO E TORACE, FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS, ROME, ITALY. – )
- LORENZO MAGGI ( – )
- GIORGIO TASCA ( -)
Presentatore
SARA BORTOLANI
Modalità
Oral Communication
Abstract
“Introduction. Distal (DM) and myofibrillar myopathies (MFM) are genetically heterogeneous groups of muscle disorders that may share clinical and muscle pathology features. This study, developed in the context of the Italian network of distal and myofibrillar myopathies (ITA-MeD), endorsed by the Italian Association of Myology, aimed to: 1) analyze muscle magnetic resonance imaging of patients with a diagnosis of MFM or DM; 2) compare imaging findings of the different DM and MFM subtypes to identify patterns of muscle involvement or additional features helpful for differential diagnosis.
Methods. Lower limb and upper girdle muscle scans were collected from 6 Italian neuromuscular centers. Up to 50 muscles were bilaterally scored based on the extent of fatty replacement on axial T1-weighted sequences. Additional findings resulting from direct visual examination of the scans were also annotated.
Results. Scans from 100 patients carrying mutations in 15 different genes were analyzed. Patterns of muscle involvement were defined for the most numerous disease groups and their specificity was calculated. Additional findings not captured in previously published cohorts were identified.
Conclusions. Our study confirms the value of pattern recognition in the diagnostic workup of DM and MFM. Larger collaborative imaging studies are needed to further define its usefulness with patients who are still molecularly undiagnosed.”