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01-02-2021 | Myotonic Dystrophy | Original article

Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study

Authors: Marco Mazzoli, Alessandra Ariatti, Giancarlo Garuti, Virginia Agnoletto, Riccardo Fantini, Alessandro Marchioni, Giuliana Galassi

Published in: Acta Neurologica Belgica | Issue 1/2021

Abstract

We studied 33 patients affected by juvenile and adult myotonic dystrophy type 1 (DM1). The aim of the study was to assess clinical and laboratory parameters that could predict the requirement of noninvasive ventilation (NIV) in DM1. Secondary outcome was to assess the interplay between genetic profile, muscle impairment severity and presence of cardiac comorbidities.Patients with genetic diagnosis of DM1 were recruited. An abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (DMPK) on chromosome 19q13.3 was the prerequisite for inclusion. The number of triplet repeats was measured in genomic DNA to classify subjects. A multidisciplinary team evaluated the patients every 6–8 months up to 18 years with serial cardiological and respiratory function assessments. Neurological progression was monitored using a validated DM1-specific rating scale (MIRS). Independent variables considered for the study outcomes were gender, genetic status, age of presentation, MIRS scores, and results of pulmonary function tests (PFTs).Patients were 17 males (51.5%) and 16 females (48.5%). 16 cases were younger than mean age of 31.4 years, the remaining 17 were up to 65. 12 subjects (36.4%) underwent NIV during follow up. Cardiac comorbidities were detected in 63.6% of cases and in 91% of patients in NIV. Among PFTs, forced vital capacity (FVC) was a reliable indicator of respiratory decline. FVC values were significantly associated with clinical muscle severity assessed by MIRS.Severity of muscular impairment, CTG expansion size, age and presence of cardiac comorbidities predict respiratory impairment in DM1

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Title: Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study
Authors: Marco Mazzoli
Alessandra Ariatti
Giancarlo Garuti
Virginia Agnoletto
Riccardo Fantini
Alessandro Marchioni
Giuliana Galassi
Publication date: 01-02-2021
Publisher: Springer International Publishing
Keywords: Myotonic Dystrophy
Pulmonary-Function Tests
Myotonic Dystrophy
Non-Invasive Ventilation
Published in: Acta Neurologica Belgica / Issue 1/2021
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-020-01425-z

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Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study

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