About this trial
Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands. Magnetic resonance imaging (MRI) and muscle ultrasound have contributed to an enhanced understanding of the pathophysiology of Facioscapulohumeral Muscular Dystrophy (FSHD). Previously, our group demonstrated the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor, and remains relatively unexplored. In this study, we aim to assess the use of ultrasound-defined contractile performance, in comparison with current measures including structural MRI, for monitoring disease progression in FSHD.
Eligibility criteria
Qualifiers
Age between 18 and 70 years.
Informed consent is given by the participant.
Ability to read and understand written and spoken instruction in Dutch.
Willingness and ability to understand nature and content of the study
Disqualifiers
BMI ≥ 35
Other diseases that could diffusely affect muscle integrity or disturb the imaging appearance beyond that what can be extrapolated.
Wheelchair dependence
Pregnancy
Trial design
Treatments tested in this trial
- Muscle ultrasound with surface electromyography and dynamometry
- MRI scan
Treatment groups
Sponsors and collaborators
Radboud University Medical Center
Lead sponsor
Solve FSHD
Collaborator