TY - JOUR
T1 - Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study
AU - Rossi, Salvatore
AU - Della Marca, Giacomo
AU - Ricci, Martina
AU - Perna, Alessia
AU - Nicoletti, Tommaso Filippo
AU - Brunetti, Valerio
AU - Meleo, Emiliana
AU - Calvello, Mariarosaria
AU - Petrucci, Antonio
AU - Antonini, Giovanni
AU - Bucci, Elisabetta
AU - Licchelli, Loretta
AU - Sancricca, Cristina
AU - Massa, Roberto
AU - Rastelli, Emanuele
AU - Botta, Annalisa
AU - Di Muzio, Antonio
AU - Romano, Sonia
AU - Garibaldi, Matteo
AU - Silvestri, Gabriella
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - DM1
KW - Myotonic dystrophy type 1
KW - Respiratory
KW - Respiratory impairment
KW - Restriction
KW - DM1
KW - Myotonic dystrophy type 1
KW - Respiratory
KW - Respiratory impairment
KW - Restriction
UR - http://hdl.handle.net/10807/140279
UR - http://www.elsevier.com/locate/jns
U2 - 10.1016/j.jns.2019.02.012
DO - 10.1016/j.jns.2019.02.012
M3 - Article
SN - 0022-510X
VL - 399
SP - 118
EP - 124
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
ER -