Apr 05, 2018
The participant was healthy with no medical concerns until the age 5. Around this time, his mother noticed that his right foot was turned in. Over time, his started to become rigid and he lost his ability to walk by the age of 10. He also had unusual movements in hands and arms when his fingers would extend and stiffen. These movements increased when he was anxious. Currently he can take a few steps, but tires easily and cannot use his hands easily. He also struggles to speak loudly, but can articulate well. He has been diagnosed with childhood onset dystonia 28.
Clinicians and researchers have identified the following de novo 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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