Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Salvatore Rossi, Giacomo Della Marca, Martina Ricci, Alessia Perna, Tommaso F Nicoletti, Valerio Brunetti, Emiliana Meleo, Mariarosaria Calvello, Antonio Petrucci, Giovanni Antonini, Elisabetta Bucci, Loretta Licchelli, Cristina Sancricca, Roberto Massa, Emanuele Rastelli, Annalisa Botta, Antonio Di Muzio, Sonia Romano, Matteo Garibaldi, Gabriella Silvestri

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Abstract

INTRODUCTION: Respiratory complications are relevant in DM1, leading to a significantly increased morbidity and mortality risk in these patients; however, so far only few studies concerning respiratory function have been conducted in DM1 patients. We report a retrospective, multicenter, cross sectional study on a large cohort of DM1 patients widely characterized in the phenotype, to assess prevalence and identify predictors of restrictive respiratory syndrome.

METHODS: 268 DM1 subjects aged >18 years, who had recently performed spirometric tests were included; restrictive syndrome was diagnosed if forced vital capacity (FVC) <80% of predicted. This cut-off was used for statistical univariate and multivariate analysis.

RESULTS: 51.9% patients showed a restrictive syndrome, and half of them had indication to non-invasive ventilation (NIV), yet only 50% resulted compliant to NIV. CTG expansion size in leukocytes, clinical muscle severity, most functional parameters of respiratory muscle involvement, presence of cardiac conduction disturbances, pacemaker (PMK), exertion dyspnea, obstructive sleep apnea, and indication and compliance to NIV were all significantly associated with restrictive syndrome at the univariate analysis; in the multivariate model only the first two factors resulted independent predictors.

DISCUSSION: A high prevalence of restrictive syndrome in our DM1 cohort, mainly due to respiratory muscles weakness, was observed and documented; the severity of muscle impairment and the CTG expansion size confirmed to be independent predictors of respiratory restriction. Our data suggest that optimization of respiratory therapeutic management, particularly regarding launching of NIV, might help to reduce the rate of deaths due to respiratory complications in DM1.

Original languageEnglish
Pages (from-to)118-124
Number of pages7
JournalJournal of the Neurological Sciences
Volume399
DOIs
Publication statusPublished - Apr 15 2019

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Rossi, S., Della Marca, G., Ricci, M., Perna, A., Nicoletti, T. F., Brunetti, V., Meleo, E., Calvello, M., Petrucci, A., Antonini, G., Bucci, E., Licchelli, L., Sancricca, C., Massa, R., Rastelli, E., Botta, A., Di Muzio, A., Romano, S., Garibaldi, M., & Silvestri, G. (2019). Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study. Journal of the Neurological Sciences, 399, 118-124. https://doi.org/10.1016/j.jns.2019.02.012