Fatigability in Spinal Muscular Atrophy
- Conditions
- SMASpinal Muscular Atrophy1002931710029299
- Registration Number
- NL-OMON44457
- Lead Sponsor
- niversitair Medisch Centrum Utrecht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 125
1) Genetically confirmed diagnosis of SMA type 2 or type 3 or type 4 (study group) or
Genetically conformed diagnosis of other neuromuscular disease without neuromuscular junction dysfunction (patient control group) or healthy subject (healthy control group)
2) Ability to follow test instructions
3) Parental informed consent/ Inform consent
4) Age 8-60 years
- Concomitant medical problems that might intervene with the outcomes of the testing:
Prior to the first test, all subjects will fill out the Preparticipation Questionnaire. This questionnaire is based on the original version designed by the American College of Sports Medicine and American Heart Association. The Dutch version is currently being used by the Child Development and Exercise Center and the Department of Cardiology during standard care procedures such as Cardio Pulmonary Exercise Testing. In the case of possible risk factors for exercise testing, the researcher will contact the medical specialist or general practitioner of the subject about the possibility to participate before the subject is included
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method