Assessing the phenotype and genotype of a wide Italian DM1 and DM2 cohort: results from the Italian Myotonic Dystrophies National Registry

Virginia Iacobelli

Assessing the phenotype and genotype of a wide Italian DM1 and DM2 cohort: results from the Italian Myotonic Dystrophies National Registry

Autori

VIRGINIA IACOBELLI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – NEUROLOGY)
MARTINA RIMOLDI (NEUROLOGY UNIT, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – )
SABRINA LUCCHIARI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – )
SERENA PAGLIARANI (NEUROLOGY UNIT, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – )
GRAZIA D’ANGELO (SCIENTIFIC INSTITUTE IRCCS E. MEDEA, NEUROMUSCULAR UNIT, LECCO, BOSISIO PARINI, ITALY – )
ROCCO LIGUORI (IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA, UOC CLINICA NEUROLOGICA, BOLOGNA, ITALY; DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE, UNIVERSITÀ DI BOLOGNA, BOLOGNA, ITALY – )
FRANCESCO OTTAVIO LOGULLO (AZIENDA OSPEDALIERA OSPEDALI RIUNITI MARCHE NORD, PRESIDIO DI FANO, UOC NEUROLOGIA, 61032 FANO, ITALY – )
ELENA PEGORARO (DEPARTMENT OF NEUROSCIENCES, UNIVERSITY OF PADUA, PADUA, ITALY – )
VALERIA SANSONE (THE NEMO CLINICAL CENTER IN MILAN, NEUROREHABILITATION UNIT, UNIVERSITY OF MILAN, ASST NIGUARDA HOSPITAL, MILAN, ITALY – )
LUCIO SANTORO (DEPARTMENT OF NEUROSCIENCES, REPRODUCTIVE SCIENCES AND ODONTOSTOMATOLOGY, UNIVERSITY OF NAPLES FEDERICO II, 80131, NAPLES, ITALY – )
MARINA SCARLATO (INSPE AND DIVISION OF NEUROSCIENCE, IRCCS SAN RAFFAELE SCIENTIFIC INSTITUTE, MILAN, ITALY – )
GABRIELE SICILIANO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, NEUROLOGICAL CLINIC, UNIVERSITY OF PISA, PISA, ITALY – )
GABRIELLA SILVESTRI (NEUROLOGY UNIT, FONDAZIONE POLICLINICO UNIVERSITARIO “”A. GEMELLI”” IRCCS, 00168 ROME, ITALY; DEPARTMENTAL UNIT OF MOLECULAR AND GENOMIC DIAGNOSTICS, FONDAZIONE POLICLINICO UNIVERSITARIO “”A. GEMELLI”” IRCCS, 00168 ROME, ITALY – )
GIUSEPPE VITA (UNITÀ DI NEUROLOGIA E MALATTIE NEUROMUSCOLARI, DIPARTIMENTO DI MEDICINA CLINICA E SPERIMENTALE, UNIVERSITÀ DI MESSINA, MESSINA, ITALY – )
GIACOMO PIETRO COMI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – NEUROLOGY UNIT, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – )
STEFANIA CORTI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – NEUROMUSCULAR AND RARE DISEASES UNIT, DEPARTMENT OF NEUROSCIENCE, FONDAZIONE IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – )
GIOVANNI MEOLA (DEPARTMENT OF NEUROREHABILITATION SCIENCES, CASA DI CURA IGEA, MILAN, ITALY – DEPARTMENT OF BIOMEDICAL SCIENCES FOR HEALTH, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – )
ELENA ABATI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY – NEUROLOGY UNIT, FOUNDATION IRCCS CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY -)

Presentatore

VIRGINIA IACOBELLI (DEPARTMENT OF PATHOPHYSIOLOGY AND TRANSPLANTATION, DINO FERRARI CENTER, UNIVERSITÀ DEGLI STUDI DI MILANO, MILAN, ITALY)

Modalità

Poster Session

Abstract

“Introduction: This study aims to provide a detailed clinical characterization of a large cohort of Italian myotonic dystrophy type 1 (DM1) and type 2 (DM2) patients using data from the Italian Myotonic Dystrophies National Registry (IMDNR).

Materials and Methods: 655 DM patients actively took part in the National Registry, while 522 forms has been submitted by clinicians from 11 Neuromuscular Centers spread across Italy, enrolled from November 2013 to November 2016; of those, 508 records were properly filled into 478 DM1 and 30 DM2 patients.We divided our DM1 population into 5 clinical forms: congenital, infantile, juvenile, adult, and late onset. CTG expansion range was available for 450 DM1 patients, and among them CTG repeat length was tested in 116 patients.

Results: In the DM1 cohort, myotonia was the leading symptom at onset, followed by weakness and myalgias. Respiratory distress was a symptom at onset in the congenital form, while in late-onset patients systemic symptoms are prevalent.
In the DM2 cohort the most relevant symptom at onset was proximal weakness, followed by myotonia and pain. Looking at the time lag between onset and diagnosis, we observed a latency in the diagnosis, twice as long in DM2 than in DM1. As regards genotype-phenotype correlation, the E1 range correlates with a later onset, while the E3 CTG range expansions with an earlier one.

Conclusions: These data provide a broad overview of the Italian DM population. Overall, this study proves the importance of national registries in the follow-up and management of patients with rare diseases.”