Myotonic Dystrophy 1
Conditions
Brief summary
Eleven men with myotonic dystrophy type 1 (DM1) underwent a 12-week lower-limb strength training program. The training program consisted of 3 series of 6 to 8 maximal repetitions of 5 different exercises: Leg extension, leg press, hip abduction, squat and plantar flexion. Training sessions were closely supervised and took place twice a week. It is hypothesised that the training program will induce muscular hypertrophy despite the genetic defect. The training program should also have positive effects on function. The participants were evaluated at baseline, week 6, week 12, month 6 and month 9 to see the effects of the training program and if these effects are maintained over time.
Interventions
OTHERTraining program
12-week strength training program of the lower limbs consisting of 5 different exercises: Leg extension, leg press, hip abduction, squat and plantar flexion. All exercises were performed between 6 and 8 maximal repetitions.
Sponsors
Fondation du Grand défi Pierre Lavoie
Élise Duchesne
Study design
Allocation
NA
Intervention model
SEQUENTIAL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Masking description
Most outcomes where not masked, however the outcome assessor was masked for all muscle biopsy analysis: while analysing the muscle biopsy outcomes, the outcome assessor did not know if it was from baseline or from after the training program.
Intervention model description
Participants had to complete a 12-week strength training program and return to their normal activities for the following 6 months after the end of the training program
Eligibility
Sex/Gender
MALE
Age
30 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* DM1 diagnosis must be confirmed by genetic analysis; * Male gender, aged between 30 and 65 years old; * Be able to walk without assistance; * Consent of the neurologist must be given to participate in this study; * Must reside in the Saguenay-Lac-St-Jean region; * Subjects must be able to give their consent freely and voluntarily.
Exclusion criteria
* Patients with any other form of muscular dystrophy are excluded; * Any contraindication for strenuous exercise or muscle biopsy.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes in maximal isometric muscle strength of the knee extensors | At baseline, week 6, week 12, month 6 and month 9 | Changes in maximal isometric muscle strength of the knee extensors measured by quantified muscle testing using a handheld dynamometer |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in maximal isometric muscle strength of the hip flexors | At baseline and week 12 | Changes in maximal isometric muscle strength of the hip flexors measured by quantified muscle testing using a handheld dynamometer |
| Changes in maximal isometric muscle strength of the hip extensors | At baseline and week 12 | Changes in maximal isometric muscle strength of the hip extensors measured by quantified muscle testing using a handheld dynamometer |
| Changes in maximal isometric muscle strength of the ankle dorsiflexors | At baseline and week 12 | Changes in maximal isometric muscle strength of the ankle dorsiflexors measured by quantified muscle testing using a handheld dynamometer |
| Changes in 1-repetition maximum strength of the leg extension exercise | At baseline, week 6 and week 12 | Changes in 1-repetition maximum strength of the leg extension exercise |
| Changes in 1-repetition maximum strength of the leg press exercise | At baseline, week 6 and week 12 | Changes in 1-repetition maximum strength of the leg press exercise |
| Changes in 1-repetition maximum strength of the hip abduction exercise | At baseline, week 6 and week 12 | Changes in 1-repetition maximum strength of the hip abduction exercise |
| Changes in 1-repetition maximum strength of the squat exercise | At baseline, week 6 and week 12 | Changes in 1-repetition maximum strength of the squat exercise |
| Changes in comfortable walking speed in the 10-meter walk test | At baseline, week 6, week 12, month 6 and month 9 | Changes in comfortable walking speed in the 10-meter walk test |
| Changes in maximal walking speed in the 10-meter walk test | At baseline, week 6, week 12, month 6 and month 9 | Changes in maximal walking speed in the 10-meter walk test |
| Changes in the number of repetitions in the 30-seconds sit-to-stand test | At baseline, week 6, week 12, month 6 and month 9 | Changes in the number of repetitions in the 30-seconds sit-to-stand test |
| Changes in the score of the lower extremity functional scale | At baseline, week 12, month 6 and month 9 | Changes in the score of the lower extremity functional scale (LEFS). The LEFS is an 80-point questionnaire with 20 items scored from 0 to 4. A score of 80 means no disfunction while a score of 0 means maximal disfunction. |
| Changes in maximal isometric muscle strength of the knee flexors | At baseline and week 12 | Changes in maximal isometric muscle strength of the knee flexors measured by quantified muscle testing using a handheld dynamometer |
| Changes in the score of the Fatigue and Daytime Sleepiness Scale | At baseline, week 6, week 12, month 6 and month 9 | Changes in the score of the Fatigue and Daytime Sleepiness Scale (FDSS). The FDSS is a 12-item questionnaire where all questions are scored from 0 to 2. A higher score means more daytime sleepiness and fatigue. |
| Changes in the Marin apathy scale | At baseline, week 12, month 6 and month 9 | Changes in the Marin apathy scale. The Marin apathy scale is scored by the clinician where he interviews the subject and then scores an 18-item list on a scale of 1 to 4. A high score means more apathy. |
| Changes in the Well-Being Manifestations Measure Scale | At baseline, week 6, week 12 and month 6 | Changes in the Well-Being Manifestations Measure Scale (WBMMS). The WBMMS is a 25-item questionnaire where each question is scored on a scale from 1 to 5. A high score means high well-being. |
| Changes in the Hospital Anxiety and Depression Scale | At baseline, week 6, week 12 and month 6 | Changes in the Hospital Anxiety and Depression Scale (HADS). The HADS is a 14-item questionnaire with a scale from 0 to 3 for each item. A high score means high depression and anxiety. |
| Changes in muscle biopsy of the vastus lateralis: muscle fiber typing | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: muscle fiber typing |
| Changes in muscle biopsy of the vastus lateralis: muscle fiber size | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: muscle fiber size (smallest diameter of the fiber) |
| Changes in muscle biopsy of the vastus lateralis: muscle proteomics | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: muscle proteomics (protein expression) |
| Changes in muscle biopsy of the vastus lateralis: muscle transcriptomics | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: muscle transcriptomics (RNA expression analysis) |
| Changes in muscle biopsy of the vastus lateralis: mitochondrial function | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: mitochondrial function. Analysis of mitochondrial markers and enzymes |
| Changes in muscle biopsy of the vastus lateralis: Nuclear foci | At baseline and week 12 | Changes in muscle biopsy of the vastus lateralis: Nuclear foci (changes in accumulation of nuclear foci) |
| Changes in the score of the myotonic dystrophy health index | At baseline, week 6, week 12, month 6 and month 9 | Changes in the score of the myotonic dystrophy health index (MDHI). The MDHI is a 114-item questionnaire scored from 0 to 100, where 0 means no disability and 100 means maximal disability. |
Countries
Canada
Outcome results
None listed