Oct 03, 2017
After the patient was born, he had trouble breathing and was admitted to the NICU. He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind.
When the patient was 1 year old, he had his first seizure during a fever. Over the next few weeks, he continued to have seizures with and without fevers. After these episodes, he would regress in terms of his milestones. His verbal skills would decline and he would have an unsteady walk (gait). MRI imaging of his brain and spine at this time were both normal. During a physical exam, he was found to have low muscle tone (hypotonia) and joints that move beyond normal range (hypermobility).
Currently the patient’s seizures are controlled with medication and he is at a 2-2.5 year level in terms of his milestones.
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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