NMD, neuromuscular disease, neuromuscular disorder, muscle disease, Duchenne muscular dystrophy, DMD, congenital myopathy, CM, myotonic dystrophy type 1, MD1, DM1, spinal muscular atrophy, SMA, limb girdle muscular dystrophy, LGMD
Conditions
Interventions
niet van toepassing
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: Proven NMD, currently receiving care at Radboudumc, UMC Utrecht, or LUMC Able to participate and comply with requirements If > 12 years: willingness and ability to understand nature and content of the study If < 16 years: legal representative with willingness and ability to understand nature and content of the study
Exclusion criteria
Exclusion criteria: Patient or legal representative unable to speak and understand Dutch or English Tracheostomy Specifically for EIT: The use of pacemakers
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Feasibility: percentage successful tests, burden, technique preference, measurement durations, repeatability.Ultrasound: respiratory muscle thickness/thickening, diaphragm excursion, respiratory muscle echogenicity.FOT: airway resistance, reactanceLCI: lung clearance index | — |
Secondary
| Measure | Time frame |
|---|---|
| Patient characteristics, such as age, type of NMD, age at disease onset.Clinical history, such as medication, respiratory support, respiratory muscle training, airway clearance techniques, respiratory tract infections, surgery and degree of scoliosis. All these data are collected as part of regular follow up. | — |
Countries
Netherlands
Contacts
Public ContactJ Doorduin
Radboud Universitair Medisch Centrum
Outcome results
None listed