Congenital myopathies Inherited muscle disorders
Conditions
Interventions
Non therapeutical intervention
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Genetically-confirmed congenital myopathy (core myopathy, nemaline myopathy, and centronuclear myopathy)
Exclusion criteria
Exclusion criteria: Other neuromuscular, psychiatric or neurological disorders
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| -Motor function measure -Endurance shuttle test | — |
Secondary
| Measure | Time frame |
|---|---|
| -Manual muscle testing -Isometric dynamometry -Range of motion -Respiratory muscle function measured by spirometry -Graded and timed rise from floor -6 MWT -7-day accelerometry -Vignos and Brooke scale -Laboratory tests -Muscle ultrasound -Muscle MRI -DEXA scan -Questionnaires -Isokinetic dynamometry -Repetitive nerve stimulation | — |
Countries
Netherlands
Contacts
Public ContactN. Voermans
Radboud Universitair Medisch Centrum
Outcome results
None listed