Sara Bortolani
Natural history of distal and myofibrillar myopathies assessed by clinical and technological outcome measures (Dista-Myo): longitudinal results
Autori
- SARA BORTOLANI (UOC DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO “A. GEMELLI” IRCCS, ROMA, ITALY; DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY. – NEUROLOGIA)
- ALEX VICINO (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FOUNDATION IRCCS NEUROLOGICAL INSTITUTE CARLO BESTA, MILANO, ITALY; NERVE-MUSCLE UNIT, NEUROLOGY SERVICE, DEPARTMENT OF CLINICAL NEUROSCIENCES, LAUSANNE UNIVERSITY HOSPITAL AND UNIVERSITY OF LAUSANNE – )
- MANUELA GAMBELLA (DEPARTMENT CENTRE DE RÉFÉRENCE DES MALADIES NEUROMUSCULAIRES, CENTRE HOSPITALIER UNIVERSITAIRE (CHU) DE NICE, FRANCE – )
- LUISA VILLA (DEPARTMENT CENTRE DE RÉFÉRENCE DES MALADIES NEUROMUSCULAIRES, CENTRE HOSPITALIER UNIVERSITAIRE (CHU) DE NICE, FRANCE – )
- MARCO RABUFFETTI (IRCCS FONDAZIONE DON CARLO GNOCCHI, MILAN, ITALY. – )
- ALBERTO MARZEGAN (IRCCS FONDAZIONE DON CARLO GNOCCHI, MILAN, ITALY. – )
- VALERIO TROMBETTA (UOC DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO “A. GEMELLI” IRCCS, ROMA, ITALY. – )
- MARTA CHELI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FOUNDATION IRCCS NEUROLOGICAL INSTITUTE CARLO BESTA, MILANO, ITALY. – )
- AURORA PARROTTA (DEPARTMENT CENTRE DE RÉFÉRENCE DES MALADIES NEUROMUSCULAIRES, CENTRE HOSPITALIER UNIVERSITAIRE (CHU) DE NICE, FRANCE – )
- ENRICA ROLLE (DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY. – )
- ELEONORA TORCHIA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY – )
- BEATRICE RAVERA (UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY – )
- MAURO MONFORTE (UOC DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO “A. GEMELLI” IRCCS, ROMA, ITALY. – )
- JEAN-YVES HOGREL (INSTITUT DE MYOLOGIE, GH PITIÉ-SALPÊTRIÈRE, PARIS, FRANCE. – )
- ENZO RICCI (UOC DI NEUROLOGIA, FONDAZIONE POLICLINICO UNIVERSITARIO “A. GEMELLI” IRCCS, ROMA, ITALY; UNIVERSITÀ CATTOLICA DEL SACRO CUORE, ROME, ITALY – )
- TIZIANA ENRICA MONGINI (DEPARTMENT OF NEUROSCIENCES “RITA LEVI MONTALCINI”, UNIVERSITY OF TORINO, TORINO, ITALY. – )
- SABRINA SACCONI (DEPARTMENT CENTRE DE RÉFÉRENCE DES MALADIES NEUROMUSCULAIRES, CENTRE HOSPITALIER UNIVERSITAIRE (CHU) DE NICE, FRANCE – )
- LORENZO MAGGI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FOUNDATION IRCCS NEUROLOGICAL INSTITUTE CARLO BESTA, MILANO, ITALY. – )
- GIORGIO TASCA (JOHN WALTON MUSCULAR DYSTROPHY RESEARCH CENTRE, NEWCASTLE UNIVERSITY AND NEWCASTLE HOSPITALS NHS FOUNDATION TRUSTS, NEWCASTLE UPON TYNE, UK. – )
Presentatore
SARA BORTOLANI
Modalità
Oral Communication
Abstract
“Introduction. Dista-Myo is an international multicentre longitudinal study that integrates validated motor function scales with novel technological tools for gait and strength assessment in patients with distal (DM) and myofibrillar myopathies (MFM). The study aims to gather natural history data and build a new toolbox for the evaluation of these disorders.
Methods. Patients were assessed by Motor Function Measure (MFM-32), timed tests and dexterity tests as functional outcome measures; technological outcome measures included Myotools for muscle strength evaluation, and wireless insoles for gait analysis.
Results. Fifty-two patients were assessed at baseline. Ninety-six% showed reduced MFM-32 scores, while 66% underperformed on 6MWT. Most patients presented impaired distal muscle strength (90% at ankle plantar-flexion, 82% at ankle dorsiflexion, 54% at grip and pinch level). Metrics extracted from gait analysis significantly differed between patients and controls and correlated with distal muscle strength and functional scores. Preliminary analysis of the changes at 12 months showed a mild but significant decrease in MFM-32 scores and MyoTools strength values compared to baseline, with a moderate responsiveness.
Conclusions. Baseline results of the global cohort of DM and MFM patients showed heterogeneous impairments in motor function. Distal muscle weakness and gait ability were efficiently captured by the combination of functional and digital outcome measures. MyoTools are promising digital tools able to define the extent of weakness even in severely affected patients and to capture changes in longitudinal studies.”