myotonic dystrophy type 1, neuromuscular disease, metabolism, body composition
Conditions
Interventions
none
Sponsors
Academisch Ziekenhuis Maastricht
Eligibility
Inclusion criteria
Inclusion criteria: - Age 18 years or older. - Legally competent adult. - Defined DM1 of the adult subtype. - Participants must be able to walk and to cycle (in order to perform exercise tests). - Participants must give informed consent by signing and dating an informed consent form.
Exclusion criteria
Exclusion criteria: - Implantation of pacemaker or ICD device, a implantable insulin device, a neurostimulator, internal hearing aid or artificial heart valve. - Implantation of orthopaedic prostheses, screws or plates. - Metal shreds or splinters inside the body. - Vascular clips in the body. - Big tattoo’s and/or permanent make-up. - Claustrophobia. - Use of medication interacting with muscle metabolism (such as steroids and statins). - Diabetes mellitus. - Weight loss of more than 3 kg in the last three months. - Pregnant or lactating women. - Use of protein supplements. - Participation in an exercise program (for a study). - Patients who are not able to perform basic activities of daily living such as walking, or patients who are suffering from other disabling comorbidity that seriously hamper physical exercise (e.g. heart failure, coronary artery disease, chronic obstructive pulmonary disease (COPD), orthopedic conditions). - Body mass index (BMI) 35 kg/m2. - Use of oral anticoagulants. - In case of DM1 affected subjects: muscular impairment rating scale (MIRS) score of 5 (which represents severe proximal muscle weakness). - In case of the healthy control group: presence of a neuromuscular disorder or an abnormal neurological examination (specifically if muscle weakness is present), or other condition possibly interfering with muscle strength or muscle mass
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study endpoints are: - total energy expenditure measured by DLW and respiration chamber; - resting metabolic rate (RMR) measured by respiration chamber; - substrate selection at rest measured by respiration chamber. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints include: - Physical activity level (PAL) measured by accelerometer; - Whole-body skeletal muscle mass measured by MRI; - Quadriceps muscle cross-sectional area measured by CT; - Maximal grip strength measured by dynamometer; - Body composition expressed as leg and whole-body lean tissue mass measured by DEXA; - Muscle tissue morphology (including fibre size, split fibres, location of nucleii, regenerating and degenerating fibres, connective tissue, inflammatory cells, inclusions and storage material), muscle fibre differentiation, muscle fibre type specific cross-sectional area and vascularization, all determined by microscopically performed histological muscle biopsy assessment; - Muscle fiber biochemical analysis: cytochrome C oxidase enzym activity; - Maximal oxygen uptake capacity (VO2 max) and aerobic and anaerobic ventilatory thresholds determined by cycling exercise test; | — |
Outcome results
None listed