ACTA MYOLOGICA (Myopathies, Cardiomyopathies and Neuromyopathies) Vol. XXXIX - September 2020 Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly EDITOR-IN-CHIEF Luisa Politano ASSISTANT EDITOR Vincenzo Nigro CO-EDITORS Lefkos Middleton Gabriele Siciliano Giuseppe Novelli Haluk Topaloglu Reinhardt Rüdel Antonio Toscano Official Journal of Mediterranean Society of Myology and Associazione Italiana di Miologia Founders: Giovanni Nigro and Lucia Ines Comi Three-monthly SCIENTIFIC BOARD Corrado Angelini, “San Camillo” Hospital, Venice, Italy Anders Oldfors, University of Gothenburg, Sweden Enrico Bertini, “Bambino Gesù” Hospital, Rome, Italy Elena Pegoraro, University of Padua, Italy Serge Braun, AFM-Telethon, Paris, France Heinz Reichmann, University Hospital, Technische Kevin P. Campbell, University of Iowa, Iowa City, USA Universität, Dresden, Germany Marinos Dalakas, University of Athens,Greece Filippo Maria Santorelli, IRCCS Stella Maris, Pisa, Italy Feza Deymeer, University of Instanbul, Turkey Serenella Servidei, Catholic University, Rome, Italy Salvatore Di Mauro, Columbia University, New York, USA Piraye Serdaroglu, University of Instanbul, Turkey Denis Duboc, Cochin Hospital, Paris, France Yeuda Shapira, University of Jerusalem, Israel Victor Dubowitz, Imperial College, London, UK Osman I. Sinanovic, University of Tuzla, Bosnia and Massimiliano Filosto, University of Brescia, Italy Herzegovina Fayçal Hentati, University of Tunis, Tunisia Michael Sinnreich, University of Basel, Switzerland Michelangelo Mancuso, University of Pisa, Italy Andoni J. Urtizberea, AP-HP Marin Hospital, Hendaye, Giovanni Meola, University of Milan, Italy France Eugenio Mercuri, Catholic University, Rome, Italy Gert-Jan van Ommen, Leiden University Medical Carlo Minetti, University of Genoa, Italy Center, the Netherlands Clemens Muller, Julius-Maximilians-University, Steve Wilton, University of Western Australia, Perth, Würzburg, Germany Australia Francesco Muntoni, University College London, UK Massimo Zeviani, University of Cambridge, UK Carmen Navarro, University Hospital of Vigo, Spain Janez Zidar, University Medical Centre, Ljubljana, Luis Negrao, University of Coimbra, Portugal Slovenia Gerardo Nigro, University of Campania “L. Vanvitelli ”, Naples, Italy EDITOR-IN-CHIEF COPY EDITOR Luisa Politano, Cardiomyology and Medical Genetics - Valentina Bàrberi Dept. of Experimental Medicine, University of Campania [email protected] “L.Vanvitelli” - Piazza Miraglia - 80138 Naples, IT Tel. +39 081 5665300 CO-EDITORS Fax +39 081 5665101 Lefkos Middleton, Imperial College London, London, UK [email protected] Giuseppe Novelli, University of Tor Vergata, Rome, IT [email protected] Reinhardt Rüdel, Ulm University, Ulm, DE ASSISTANT EDITOR Gabriele Siciliano, University of Pisa, Pisa, IT Vincenzo Nigro, University of Campania, “L. Vanvitelli”, Haluk Topaloglu, University of Hacettepe, Ankara, TR Naples, IT - [email protected] Antonio Toscano, University of Messina, Messina, IT EDITORIAL STAFF Chiara Fiorillo, G. Gaslini Hospital, Genoa, IT Lorenzo Maggi, Besta Neurological Institute, Milan, IT Giulia Ricci, University of Pisa, Pisa, IT Lucia Ruggiero, University of Naples “Federico II”, Naples, IT Vincenzo Russo, University of Campania, “L. Vanvitelli”, Naples, IT BOARD OF THE MEDITERRANEAN SOCIETY OF MYOLOGY V. Nigro, President H. Topaloglu, Past President L.T. Middleton, G. Siciliano, Vice Presidents K. Christodoulou, Secretary L. Politano, Treasurer E. Abdel-Salam, M. Dalakas, F. Deymeer, F. Hentati, G. Meola, Y. Shapira, E. Tizzano, A. Toscano, J. Zidar Co-opted Members: V. Askanas, S. Di Mauro, R. Rüdel Acta Myologica publishes 4 issues per year in March, June, September, December. The Journal is available in OPEN ACCESS at: www.actamyologica.it Acta Myologica is cited in Index Medicus, MEDLINE, Science Citation Index Expanded, Scopus, DOAJ, Open-J Gate, Free Medical Journals, Index Copernicus, Socolar, WOS. The Journal is available on PubMed Central (http://www.ncbi.nlm.nih.gov/ pmc/journals/1221/). Journal Citation Reports: Impact Factor SJR 2017 0.518; SNIP 2017 0.818 Acta Myologica is available on Google Scholar All correspondence should be addressed to: Mediterranean Society of Myology - Cardiomyology and Medical Genetics - Primo Policlinico - Piazza Miraglia - 80138 Naples, Italy - Tel. +39 081 566 5300 - Fax +39 081 566 5101. Tribunal Authorization, Napoli N. 3827, January 10, 1989 - Journal registered at “Registro pubblico degli Operatori della Comunicazione” (Pacini Editore srl registration n. 6269 - 29/8/2001). The editor remains at the complete disposal of those with rights whom it was impossible to contact, and for any omissions. © Copyright by Gaetano Conte Academy - Mediterranean Society of Myology. All rights reserved. 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Gherardesca - 56121 Pisa, Italy Published by Pacini Editore Srl, Pisa, Italy, September 2020 CONTENTS ORIGINAL ARTICLES Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single centre Marco Mazzoli, Alessandra Ariatti, Gian Carlo Garuti, Virginia Agnoletto, Maurilio Genovese, Manuela Gozzi, Shaniko Kaleci, Alessandro Marchioni, Marcella Malagoli, Giuliana Galassi. 109 Respiratory function and therapeutic expectations in DMD: families experience and perspective Claudia Brogna, Simona Lucibello, Giorgia Coratti, Gianluca Vita, Valeria A. Sansone, Sonia Messina, Emilio Albamonte, Francesca Salmin, Gloria Ferrantini, Elisa Pede, Chiara Consulo, Lavinia Fanelli, Nicola Forcina, Giulia Norcia, Marika Pane, Eugenio Mercuri .......................................... 121 Endocrine myopathies: clinical and histopathological features of the major forms Carmelo Rodolico, Carmen Bonanno, Alessia Pugliese, Giulia Nicocia, Salvatore Benvenga, Antonio Toscano ... 130 CASE REPORTS Beneficial effects of one-month sacubitril/valsartan treatment in a patient affected by end-stage dystrophinopathic cardiomyopathy Andrea Antonio Papa, Emanuele Gallinoro, Alberto Palladino, Paolo Golino .............................. 136 Silent dysphagia in two patients with Steinert disease and recurrent respiratory exacerbations Anna Annunziata, Tullio Valente, Rosa Cauteruccio, Giuseppe Fiorentino ................................ 141 NEWS FROM AROUND THE WORLD AIM ........................................................................................ 144 MSM ....................................................................................... 144 WMS ....................................................................................... 144 FORTHCOMING MEETINGS ................................................................. 145 AIM-ASNP 2020 JOINT CONGRESS – Scientific Program ............................................. 146 Instructions for Authors ......................................................................... 171 ACTA MYOLOGICA 2020; XXXIX: p. 109-120 ORIGINAL ARTICLES doi:10.36185/2532-1900-015 Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center Marco Mazzoli1, Alessandra Ariatti1, Gian Carlo Garuti2, Virginia Agnoletto3, Maurilio Genovese4, Manuela Gozzi5, Shaniko Kaleci6, Alessandro Marchioni7, Marcella Malagoli4, Giuliana Galassi1 1 Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of Modena, Italy; 2 Respiratory Unit, Mirandola Hospital, Italy; Cardiology Unit, University Hospitals of Modena, Italy; 4 Neuroradiology Unit, University Hospitals of Modena, Italy; 5 Radiology Unit, University Hospitals of Modena, Italy; 6 Department of Surgical, Medical, Dental and Morphological Science with Interest in Transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy; 7 Respiratory Diseases Unit, Department of Medical and Surgical Sciences, University Hospitals of Modena, Italy The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystro- phy. Received: May 11, 2020 Accepted: September 8, 2020 Methods. A retrospective observational cohort study was undertaken. Thirty-three patients with genetic diagnosis of DM1 were followed at our Neuromuscular unit Correspondence in Modena. Abnormal trinucleotide repeat (CTG) expansion of dystrophy protein Giuliana Galassi kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite for inclusion. Department of Biomedical, Metabolic, Neural Sciences, The number of CTG repeats was determined. All the participants were older than University Hospitals of Modena, via P. Giardini 1355, Modena, Italy. E-mail: [email protected] 14 at the time of enrolment, therefore they could be included into the juvenile or adult form of the disease. Participants were neurologically