Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop

2013 ◽  
Vol 23 (12) ◽  
pp. 1056-1068 ◽  
Author(s):  
Cynthia Gagnon ◽  
Giovanni Meola ◽  
Luc J. Hébert ◽  
Jack Puymirat ◽  
Luc Laberge ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
International Workshop ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013

2015 ◽  
Vol 25 (7) ◽  
pp. 603-616 ◽  
Author(s):  
Cynthia Gagnon ◽  
Giovanni Meola ◽  
Luc J. Hébert ◽  
Luc Laberge ◽  
Mario Leone ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
International Workshop ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
San Sebastian

scholarly journals Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015

2018 ◽  
Vol 5 (4) ◽  
pp. 523-537 ◽  
Author(s):  
Cynthia Gagnon ◽  
Chad Heatwole ◽  
Luc J. Hébert ◽  
Jean-Yves Hogrel ◽  
Luc Laberge ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
International Workshop ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
The Third

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1

2021 ◽  
Vol 8 (1) ◽  
pp. 137-149
Author(s):  
Isabelle Lessard ◽  
Sébastien Gaboury ◽  
Cynthia Gagnon ◽  
Kévin Bouchard ◽  
Kévin Chapron ◽  
...  
Keyword(s):  
Training Program ◽  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Functional Mobility ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Walk Test ◽  
Adult Form ◽  
Home Based

Background: Muscle weakness is a cardinal sign of myotonic dystrophy type 1, causing important functional mobility limitations and increasing the risk of falling. As a non-pharmacological, accessible and safe treatment for this population, strength training is an intervention of choice. Objective: To document the effects and acceptability of an individualized semi-supervised home-based exercise program on functional mobility, balance and lower limb strength, and to determine if an assistive training device has a significant impact on outcomes. Methods: This study used a pre-post test design and men with the adult form of DM1 were randomly assigned to the control or device group. The training program was performed three times a week for 10 weeks and included three exercises (sit-to-stand, squat, and alternated lunges). Outcome measures included maximal isometric muscle strength, 10-Meter Walk Test, Mini-BESTest, 30-Second Chair Stand Test and 6-minute walk test. Results: No outcome measures showed a significant difference, except for the strength of the knee flexors muscle group between the two assessments. All participants improved beyond the standard error of measurement in at least two outcome measures. The program and the device were well accepted and all participants reported many perceived improvements at the end of the program. Conclusions: Our results provide encouraging data on the effects and acceptability of a home-based training program for men with the adult form of DM1. These programs would reduce the financial burden on the health system while improving the clinical services offered to this population.

scholarly journals Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

2021 ◽  
Vol 7 (2) ◽  
pp. e572
Author(s):  
Stephan Wenninger ◽  
Sarah A. Cumming ◽  
Kristina Gutschmidt ◽  
Kees Okkersen ◽  
Aura Cecilia Jimenez-Moreno ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Clinical Symptoms ◽  
Control Group ◽  
Mcgill Pain Questionnaire ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Link Type ◽  
Cardiac Symptoms

ObjectiveTo assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention.MethodsAdult patients with DM1 were recruited within the OPTIMISTIC trial (NCT02118779). Disease-related history, current clinical symptoms and comorbidities, functional assessments, and disease- and health-related questionnaires were obtained at baseline and after 5 and 10 months. After genetic analysis, we assessed the association between the presence of VR interruptions and clinical symptoms' long-term outcomes and compared the effects of CBT in patients with and without VR interruptions. Core trial outcome measures analyzed were: 6-minute walking test, DM1-Activ-C, Checklist Individual Strength Fatigue Score, Myotonic Dystrophy Health Index, McGill-Pain questionnaire, and Beck Depression inventory—fast screen. Blood samples for DNA testing were obtained at the baseline visit for determining CTG length and detection of VR interruptions.ResultsVR interruptions were detectable in 21/250 patients (8.4%)—12 were assigned to the standard-of-care group (control group) and 9 to the CBT group. Patients with VR interruptions were significantly older when the first medical problem occurred and had a significantly shorter disease duration at baseline. We found a tendency toward a milder disease severity in patients with VR interruptions, especially in ventilation status, mobility, and cardiac symptoms. Changes in clinical outcome measures after CBT were not associated with the presence of VR interruptions.ConclusionsThe presence of VR interruptions is associated with a later onset of the disease and a milder phenotype. However, based on the OPTIMISTIC trial data, the presence of VR interruptions was not associated with significant changes on outcome measures after CBT intervention.Trial Registration InformationClinicalTrials.govNCT02118779.

scholarly journals Responsiveness of outcome measures in myotonic dystrophy type 1

2020 ◽  
Vol 7 (8) ◽  
pp. 1382-1391
Author(s):  
Kirsten L. Knak ◽  
Aisha M. Sheikh ◽  
Nanna Witting ◽  
John Vissing
Keyword(s):  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type
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