Patient case (clinical description): An 8-year-old boy is brought to the clinic by his parents because of weakness and difficulty of standing up from a sitting position. The mother is healthy but had a brother who died in his 20th after being disabled and using wheelchairs in the last few years of his life. Physical examination shows 3/5 lower extremity muscle strength and enlarged calf muscles. The other physical examination and vital signs are unremarkable. Muscle biopsy showed absence of dystrophin protein. The patient is diagnosed with DMD.

Patient's own account: I brought my  8-year-old son to the doctor's clinic. He was struggling to stand up from a chair for the past few days. My wife is healthy but she was pretty worried since his brother died in his 20s after being disabled and using a wheelchair for the last years of his life. The doctor did an exam which highlighted weakness in the leg muscles and unusually large calf muscles. The rest of the exam was fine, and his vitals were normal. My son did a muscle biopsy, and it showed that the protein important for muscle strength and function is missing. The doctor diagnosed him with Duchenne muscular dystrophy.

Clinical trial: Brain Involvement in Dystrophinopathies Part 2

Eligibility criteria:
Inclusion Criteria:

        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

        Exclusion Criteria:

        For DMD and BMD patients:

          -  Lack of a molecular diagnosis of DMD or BMD

          -  Mutation falls outside the regions of interest

          -  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:

          -  any muscle disease

          -  a brain disorder (such as severe brain concussion in past history, congenital brain
             anomalies, epilepsy)

        General exclusion criteria for MRI:

          -  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 during less than 45 minutes

          -  not having a general practitioner

          -  severe learning disability which will require a general anaesthetic
Male
Accepts Healthy Volunteers
Subject must be at least 5 Years old.
Subject must be at most 50 Years

Eligibility (NLI label): Entailment