Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort

2016 ◽  
Vol 26 (10) ◽  
pp. 666-674 ◽  
Author(s):  
Ghilas Boussaïd ◽  
Frédéric Lofaso ◽  
Dante Brasil Santos ◽  
Isabelle Vaugier ◽  
Sandra Pottier ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Prospective Cohort ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Factors Influencing ◽  
Non Invasive Ventilation

Factors influencing compliance to long-term respiratory therapies in patients with myotonic dystrophy type 1

2017 ◽  
Author(s):  
Sandra Pedrero Tejada ◽  
Beatriz Gonzalez Quero ◽  
Idoia Salinas Garrido ◽  
Leyre Serrano Fernandez ◽  
Valentin Cabriada Nuño ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Factors Influencing

scholarly journals Factors Influencing the Severity and Progression of Respiratory Muscle Dysfunction in Myotonic Dystrophy Type 1

2021 ◽  
Vol 12 ◽  
Author(s):  
Leigh Hartog ◽  
Jing Zhao ◽  
Jerry Reynolds ◽  
Gabrielle Brokamp ◽  
Ferdinand Vilson ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Functional Decline ◽  
Rate Of Change ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Respiratory Dysfunction ◽  
Respiratory Impairment ◽  
Factors Influencing ◽  
Wide Variability

Respiratory complications are the most common cause of death among patients with Myotonic Dystrophy type 1 (DM1), but the natural history of respiratory decline in DM1 patients is incompletely characterized and few predictors of the progression of respiratory dysfunction have been identified. To identify factors influencing the progression of respiratory dysfunction electronic medical records from 110 adult patients diagnosed with DM1 were reviewed along with data for respiratory symptoms and pulmonary function obtained from routine respiratory therapist clinical evaluations. At baseline, 70.9% had evidence of restrictive respiratory impairment. We examined various parameters of respiratory functional status, and found FVC (% predicted) correlated best with other measures of disease severity. Annual change in FVC was −1.42 (std error = 0.381). Greater CTG repeat size, higher MIRS rating, and longer disease duration were all correlated with lower baseline FVC but not with annual rate of change. Wide variability in clinical phenotype made determination of disease measures directly related to respiratory functional decline challenging.

Myotonic dystrophy type 1: Long term natural history data

2016 ◽  
Vol 26 ◽  
pp. S195-S196
Author(s):  
L. De Waele ◽  
C. Vanwesemael ◽  
N. Goemans
Keyword(s):  
Natural History ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
History Data

scholarly journals Non-invasive monitoring of alternative splicing outcomes to identify candidate therapies for myotonic dystrophy type 1

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Ningyan Hu ◽  
Layal Antoury ◽  
Timothy M. Baran ◽  
Soumya Mitra ◽  
C. Frank Bennett ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Invasive Monitoring ◽  
Myotonic Dystrophy Type ◽  
Non Invasive

scholarly journals Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
A. Perfetti ◽  
S. Greco ◽  
R. Cardani ◽  
B. Fossati ◽  
G. Cuomo ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Small Groups ◽  
Unmet Need ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Non Invasive ◽  
Stringent Selection ◽  
Muscle Biopsies ◽  
Skeletal Muscle Strength

Abstract Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.

Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective

2018 ◽  
Vol 28 (2) ◽  
pp. 194 ◽  
Author(s):  
Ghilas Boussaid ◽  
Frédéric Lofaso ◽  
David Orlikowski ◽  
Dante Santos Brasil ◽  
Stéphane Bahrami ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Mechanical Ventilation ◽  
Myotonic Dystrophy ◽  
Invasive Mechanical Ventilation ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Non Invasive
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