Jan 04, 2018
The participant was meeting his developmental milestones until age 6 when he started to struggle with walking, falling 2-3 times a month. He also started slurring his words and his speech became muffled, making it difficult to understand.
A year later when he was evaluated, he was found to have difficulty controlling voluntary movements (ataxia), overactive reflexes (hyperreflexia), and uncontrolled eye movements (nystagmus). At the age of 9, he started having myoclonic jerks 1-3 times a day. Over time, the weakness in his face and limbs progressed causing difficulty with writing, walking, and feeding. Currently the participant is nonverbal, wheelchair dependent, uses a G-tube for feeding, and has brain damage (diffuse cerebral atrophy).
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms (Marcogliese et al, 2018). To learn more about ongoing research about changes in this gene, please visit the gene page.
If this participant sounds like you or someone you know, please contact us!
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