muscle disease neuromuscular disease
Conditions
Interventions
The imaging techniques (MRI and US), muscle- and function tests can be
considered non-therapeutic interventions, as these are nog standard care for
each child.
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
No minimum to 17 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: • Confirmed diagnosis of SMA, DMD, BMD, LGMD, FSHD, or DM1 by DNA analysis • Younger than 18 years old at start of inclusion
Exclusion criteria
Exclusion criteria: Children can participate when they can undergo, at minimum, either the muscle MRI or muscle US examination. MRI Participants will be excluded from the MRI when they are not able to understand instructions and/or perform tasks related to MRI or when they have contra-indications to MRI scanning, these are: • The impossibility to perform MRl without sedation, for example very young children (i.e. under 5 years of age) or those with severe cognitive or behavioural problems; • Claustrophobia; • Pacemakers and defibrillators; • Nerve stimulators; • Intracranial clips; • Intraorbital or intraocular metallic fragments; • Cochlear implants; • Ferromagnetic implants (e.g. thoracic implant for scoliosis); • Inability to lie supine for 60 minutes; • Necessity of (continuous) daytime ventilation; and • Inability to fit in the MRI scanner bore e.g. due to body size or contractures If needed, a child can experience the feeling of being in the MRI via a *dummy* MRI scanner, which is a replica of a clinical MRI scanner tunnel. This will help the child to determine whether they will feel comfortable in the bore during the real examination. US Participants will be excluded from the US when they are not able to understand instructions and/or perform tasks related to US. Muscle function and strength Participants will be excluded from some of the muscle function or muscle strength tests when they are not able to understand instructions and/or perform the relevant tasks, for example if they cannot exert maximal force. This may be the case for some tests in very young children (i.e. under age of 4 years of age) or those with severe cognitive or behavioural problems judged by evaluator or with recent history of surgery or illness.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome measures are muscle fat fraction for MRI, mean muscle echogenicity for US, newtons for maximal isometric strength and motor function total score for functional tests. | — |
Secondary
| Measure | Time frame |
|---|---|
| Other study parameters are muscle water characteristics (T2water) and muscle volume determined with MRI, muscle diameter and visual scoring with US, and additional muscle strength and function tests, like peak torque and muscle power, and disease-specific function scores. | — |
Countries
Netherlands
Outcome results
None listed