Jan 09, 2019
The participant was born early at 34 weeks, but was healthy for the first few months of life. At the age of three and a half months, he had a fever that required hospital admission. Since then, he has experienced involuntary muscle contractions (dystonia) and has not been able to hold his head up, sit, stand, or walk unassisted. He uses a walker but he has become weaker over time. When he is hungry or very cold, he becomes extremely tense and cannot move his eyes. He also has increased reflexes (hyperreflexia), contractures of the fingers and wrists, narrow fingertips (tapered fingers), a small jaw (micrognathia), and posteriorly rotated ears.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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