Jul 16, 2019
The participant has experienced involuntary movements of his arms, legs, and face continuously since birth (choreoathetosis). He also has low muscle tone, underactive reflexes, and abnormal eye movements with episodes of eye rolling. He has brain disease with seizures (epileptic encephalopathy) and a recent MRI of his brain showed brain volume loss and abnormal structures. He was previously able to grasp items and bring them to his mouth, but he is no longer able to.
Other symptoms include visual and hearing impairment, abnormal facial features, light pigmentation (hypopigmentation) that may be a familial trait, a port-wine stain birthmark (nevus flammeus), and feeding difficulties.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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