Jan 08, 2019
The participant had difficulties rolling over and sitting at 6 months old. He started physical therapy at 9 months after not reaching additional developmental milestones. Around the same time, he was diagnosed with nystagmus, an eye abnormality in which the eyes repetitively move horizontally. The participant developed “staring spells” and had abnormal brain electrical activity (EEG with parietal and temporal focal spikes). Currently, he has difficulty speaking (dysarthria) and has better receptive than expressive language. In addition, he has low muscle tone (neonatal hypotonia) as well as poor balance. His lack of balance has lead the participant to experience frequent falls. He has difficulty with coordination and motor planning and utilizes a walker and manual wheelchair for mobility. Lastly, the participant has repetitive behavior (stereotypy) that consists of bending his head to the right side and is often combined with hand flapping.
Clinicians and researchers have identified the following de novo 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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