Apr 18, 2019
At 3 months, the participant’s parents noticed that she was not yet rolling over. Around 4.5 months, she started vomiting every two or three days. Soon after, she was noticed to have frequent and unusual head movements. During these episodes, she would move her head from side to side and her eyes would roll up. She was diagnosed with significant low muscle tone (hypotonia), no head control, mildly increased reflexes, and intermittent head shaking/tremor. She underwent an electroencephalogram (EEG), which was normal. A brain MRI showed enlargement of the subarachnoid spaces. A follow-up brain MRI showed other abnormal findings (abnormal cerebellum morphology, cerebellar atrophy, cerebellar vermis atrophy, open operculum).
Currently the participant still has unusual head movements, but they are less frequent. She has some shakiness when she is falling asleep, waking up, or reaching for objects. She also had a gastrostomy tube (G-tube) placed because of her vomiting episodes.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
*Note: only one variant identified.
If this participant sounds like you or someone you know, please contact us!
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