Brain Involvement in Dystrophinopathies Part 2

Prior treatment

• A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant
  • For MRI controls:
• Cochlear implants
• Ferromagnetic implants (e.g. thoracic implant for scoliosis)

Other illness

• any muscle disease
• a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy)
  • General exclusion criteria for MRI:

Other

• For DMD and BMD patients:
• Lack of a molecular diagnosis of DMD or BMD
• Mutation falls outside the regions of interest
• Claustrophobia
• Pacemakers and defibrillators
• Nerve stimulators
• Intracranial clips
• Intraorbital or intraocular metallic fragments
• Inability to lie supine during less than 45 minutes
• not having a general practitioner
• severe learning disability which will require a general anaesthetic

• For DMD patients:
• Male
• age 5-17 years
• genetically-proven diagnosis of DMD
• genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3)
  • For BMD patients:
• age 5-50 years
• genetically-proven diagnosis of BMD
• genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3).
  • For MRI controls:
• Male
• age 5-50 years