Spinal Atrophy 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 All types of SMA 12 years and older Standardized prescription treatment dosage Ability and willing to give informed consent/ parental informed consent Ability to perform active arm exercise movements in a supine position Ability to follow test instructions Sufficient understanding of the Dutch language
Exclusion criteria
Exclusion criteria: Pregnancy Mental retardation (Other) relevant medical disorders; i.e. comorbidities affecting exercise tolerance Being under examination for non-diagnosed disease at the time of investigation Contra-indications to MRI examination according to 7T MRI screening guideline of the UMCU
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study parameters are differences in the magnitude and rate of changes in the concentrations of phosphocreatine (PCr), inorganic phosphate (Pi) and pH in arm muscles during dynamic exercise of m. biceps and m. triceps and recovery, after two months of pharmacological treatment | — |
Secondary
| Measure | Time frame |
|---|---|
| 1) Muscle function (strength, endurance and/or power) 2) Motor function (upper extremity, general) 3) Patient Reported Outcome Measures a. Questionnaire on physical activity b. Questionnaire on functional status c. Questionnaire on perceived fatigue | — |
Countries
Netherlands
Outcome results
None listed