Dec 16, 2019
At 6 months of age, the participant’s parents noticed she was not rolling over or reaching or playing with toys. They also noticed abnormal eye movements. She was eventually diagnosed with nystagmus and oculomotor apraxia.
At 15 months, the participant experienced her first seizure when she had a fever (simple febrile seizure) and had a non-febrile seizure soon after (generalized tonic-clonic seizure). Brain imaging showed multiple brain abnormalities (cerebellar atrophy, small cerebral cortex, hypoplasia of the brainstem).
Currently, the participant has difficulty controlling voluntary movements (limb ataxia, truncal ataxia, chorea) and is nonverbal. She utilizes an eye gaze device to communicate and can express likes and dislikes and say hello and goodbye.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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