May 28, 2019
The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved.
In addition to these symptoms, the participant has seizures and reports feeling extremely overheated before she experiences a seizure. She also has short stature, low muscle tone (generalized hypotonia), sees music in color (synesthesia), and experiences fainting episodes (syncope).
If this participant sounds like you or someone you know, please contact us!
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