Nov 01, 2018
Early in life, the participant began to show signs of motor and developmental delay and started having absence seizures at 3 years old. Her motor development has been quite slow. She currently has significant muscle weakness, low muscle tone in her face and trunk (facial and axial hypotonia), high muscle tone and involuntary muscle contractions in her arms and legs (appendicular hypertonia and dystonia of extremities), and intermittent twisted neck (cervical torticollis). Now, at 6 years old, she walks with a gait trainer and does not roll or sit independently. She has significant speech delays, especially with expressive language. She uses a communication device and recently learned her first word, “Mama”.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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