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: DART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls

Eligibility criteria:
Inclusion Criteria:

        DMD Subject Cohorts

          -  Male subjects

          -  Subjects with a chronologic age of 3 to 7 years inclusive for Cohort A, and 8 to 12
             years inclusive for Cohort B

          -  Subjects with DMD diagnosed with mutational testing and/or absence of dystrophin on
             muscle biopsy

          -  Subjects with proximal pelvic girdle weakness (Gower's maneuver, difficulty with
             arising from floor and going up steps)

          -  Subjects who can walk 10 meters unassisted (ie, without braces, canes, or other aids)

          -  Subjects who are taking systemic corticosteroids and/or any other medication which, in
             the judgment of the investigator, could impact muscle strength or physical activity
             levels, must be on a stable dose for at least 4 weeks prior to initiation of study
             measurements

          -  Subjects who provide assent, as stipulated by IRB requirements, and whose
             parent/guardian signs an informed consent form

          -  Subjects who are willing and able to cooperate and comply with all protocol
             requirements and procedures

        Healthy Control Cohort

          -  Healthy males with normal neuromuscular examination

          -  Subjects with a chronologic age of 3 to 7 years inclusive for Cohort C, and 8 to 12
             years inclusive for Cohort D

          -  Subjects who provide assent, as stipulated by IRB requirements, and whose
             parent/guardian signs an informed consent form

          -  Subjects who are willing and able to cooperate and comply with all protocol
             requirements and procedures

        Exclusion Criteria:

          -  Subjects with daytime ventilatory dependence (non-invasive or tracheostomy)

          -  Subjects enrolled in a DMD therapeutic clinical trial concomitantly or within the past
             4 weeks

          -  Subjects with any physical or mental condition which may, in the investigator's
             opinion, render the subject unable to complete the tasks of the study appropriately
Male
Accepts Healthy Volunteers
Subject must be at least 3 Years old.
Subject must be at most 12 Years

Eligibility (NLI label): Entailment