Oct 01, 2019
The participant had normal development until about 6 years. Around that time, her development plateaued. At age 9 she began having seizures, which have worsened over time.
The participant has some brain abnormalities (cortical dysplasia and an EEG with generalized slow activity); however, clinicians do not believe these findings explain all of her symptoms. Recently, she also developed gait and balance issues as well as a tremor with some movements.
A variant of unknown significance in the FBN1 gene was found in this participant which may explain some of her physical features. However, clinicians do not believe this explains her other symptoms and research into the cause of her condition is still ongoing.
The participant’s symptoms were found to be caused by a genetic change in the ATN1 gene, which diagnosed her with Dentatorubral-pallidoluysian atrophy.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms.
If this participant sounds like you or someone you know, please contact us!
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