Spinal Muscular Atrophy
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Genetically confirmed diagnosis of SMA type 3/4 OR gender and age matched healthy controlsAge 12 and olderInformed consent/ parental informed consent Ability to perform active arm cycling movements in a supine positionAbility to follow test instructionsSufficient understanding of the Dutch languageM. Biceps MRC * 4 and M. Triceps MRC * 2 M. Quadriceps MRC * 3 and M. Psoas MRC * 2
Exclusion criteria
Exclusion criteria: Ineligible to perform an exercise testPregnancy (Other) relevant medical disorders; i.e. comorbidities affecting exercise tolerance Being under examination for non-diagnosed disease at the time of investigation Contra-indications concerning MRS assessmentRisk factors for exercise testing registered by a Dutch version of the Preparticipation Questionnaire (American College of Sports Medicine and American heart Association). Possible risk factors will be discussed with a medical specialist or general practitioner before a subject can be included andere vormen
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Changes in high-energy phophate metabolites; in rest, during exercise and during recovery - Adenosine Triphosphate (ATP) - phosphocreatine (PCr) - inorganic Phophate (Pi) - myofiber pH | — |
Secondary
| Measure | Time frame |
|---|---|
| Associations between 1) muscle energy metabolism, 2) MRI scans, 3) respiratory gas-exchange, 4) surface Electromyography, 5) Near Infrared Spectroscopy, 6) blood spot samples during rest, incremental supine arm and leg cycling tests and recovery. | — |
Countries
Netherlands
Outcome results
None listed