Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillar and Distal Myopathies
Sara Bortolani, Marco Savarese, Gaetano Vattemi, Silvia Bonanno, Yuri Falzone, Alessia Pugliese, Guido Primiano, Cristina Sancricca, Diego Lopergolo, Giulia Greco, Chiara Gemelli, Sabrina Ravaglia, Roberta Bencivenga, Daniele Velardo, Francesca Magri, Maria Lucia Valentino, Marta Cheli, Eleonora Torchia, Matteo Lucchini, Antonio Petrucci, Giulia Ricci, Matteo Garibaldi, Guja Astrea, Anna Rubegni, C. Angelini, Alessandra Ariatti, Filippo M. Santorelli, Alessandra Ruggieri, Giovanni Antonini, Gabriele Siciliano, Massimiliano Filosto, Massimiliano Mirabella, Rocco Liguori, Giacomo P. Comi, Lucia Ruggiero, Marina Grandis, Roberto Massa, Alessandro Malandrini, Serenella Servidei, Tiziana Mongini, Carmelo Rodolico, António Toscano, Stefano C. Previtali, Paola Tonin, Jordi Díaz‐Manera, Mauro Monforte, Enzo Ricci, Lorenzo Maggi, Giorgio Tasca
Abstract
BACKGROUND AND OBJECTIVES: The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly undefined disease entities, and the overlapping features between the 2 categories. This study aimed to characterize a large cohort of patients affected by MFM and DM and identify the most important diagnostic and prognostic aspects of these diseases. METHODS: Patients with either a myopathological diagnosis of MFM or a clinical diagnosis of DM were included in this retrospective multicentric national study. Demographic, genetic, clinical, and histopathologic data of anonymized patients were collected from the neuromuscular centers of the Italian Association of Myology network. RESULTS: -related myopathies, with the risk of losing ambulation during the disease course. DISCUSSION: The Italian cohort of patients with MFM and DM recapitulates the phenotypic heterogeneity and the partial overlap between the 2 groups. However, in relative contrast to the encountered phenotypic variability, only 5 genes accounted for most of the molecular diagnoses. Specific genetic entities are associated with significantly increased risk of developing cardiorespiratory complications or loss of ambulation, which has relevant prognostic implications.