Aug 22, 2017
The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that he seems to be able to understand when others are talking to him, but struggles to move his mouth to form words.
At age 5, he was found to have brain disease (progressive encephalopathy), low muscle tone (muscular hypotonia), and difficulty controlling voluntary movements (limb and truncal ataxia). He also has loose ligaments (ligamentous laxity), uncontrollable movements (choreoathetosis), and overactive reflexes (hyperreflexia).
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms (Marcogliese et al, 2018):
If this participant sounds like you or someone you know, please contact us!
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