Myotonic dystrophy type I
Conditions
Interventions
None
Sponsors
Radboudumc
Eligibility
Inclusion criteria
Inclusion criteria: • Healthy subject: competent adult volunteers • Patients: genetically-confirmed adult patients with myotonic dystrophy • Normal or corrected-to-normal vision • Normal uncorrected hearing • Willingness and ability to understand nature and content of the study • Ability to participate and comply with study requirements
Exclusion criteria
Exclusion criteria: • History of or current neurological or psychiatric treatment • History of or current brain surgery or epilepsy • Pregnancy • MRI incompatibility (metal parts in upper body, implants, medical devices or medicinal plasters) • TMS incompatibility (metal parts in head, skin allergies) • Claustrophobia
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Breathing-task related cerebral activity as a function of breathing condition (rest, paced and loaded) and disease (with or without myotonic dystrophy) measured using fMRI at T=0 | — |
Secondary
| Measure | Time frame |
|---|---|
| Other MRI measures (T=0): • T1 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume • T2 structural scan- focal/general (ROI) atrophy with voxel-based measuring of cerebral cortex volume • Resting state functional connectivity (seed regions, derived from breathing related fMRI) Physiological measurements inside MRI (T=0): • Breathing rate, and depth is recorded using an pneumotachograph that records airway flow. • Oxygen and carbon dioxide content in expired air is measured using a gas sampling module. • Electrodermal activity (EDA): EDA is a measure of sympathetic autonomic nervous system activation and is measured using Ag/AgCI electrodes placed on the hand • Heart rate (HR): HR is measured using electrocardiography (ECG) using 3 lead electrodes attached to the skin surface, or using a pulse oximeter affixed to a finger. • Tracking of eye gaze and pupil diameter: eye tracking is used to inform about the participant's gaze position and saccade latencies. Pupil diameter is a measure of arousal. • Surface electromyography (EMG): EMG is measured using Ag/AgCI electrodes place on the skin over muscles of interest (diaphragm and intercostal muscles). Physiological measurements outside MRI (T=0): • Forced vital capacity (FVC), force expiratory volume in 1 second (FEV1), maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) • Hypercapnic ventilatory response curve (HCVR): HCVR will be determined using the CO2-rebreathing technique. • Respiratory related evoked potential (RREP): RREP is a measure of cerebral cortical activity elicited by a short inspiratory occlusion. • Transcranial magnetic stimulation (TMS) diaphragm: TMS is an established tool for investigating the corticospinal pathways involved in the control of breathing. | — |
Contacts
Public ContactJonne Doorduin
Radboudumc
Outcome results
None listed