Jul 20, 2020
The participant’s parents first noticed delays in his motor development around 2 years old. He began walking at 15 months but was unsteady on his feet. He had an abnormal gait while walking and muscle weakness mostly in his upper arms and legs (proximal muscle weakness). He also had low muscle tone (hypotonia). He has consistently had elevated creatine kinase, which can indicate muscle damage. A muscle biopsy showed chronic myopathy suggestive of a dystrophic process. At 4 years old he had a borderline dilated left ventricle with normal function.
Currently the participant is able to walk and run but is still unsteady. He uses a handrail in order to climb stairs.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms.
If this participant sounds like you or someone you know, please contact us!
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