Jun 08, 2017
Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3.
At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also began to have trouble with fine motor tasks and her movements and speech slowed. Her symptoms would get progressively worse as the day would go on. She was started on a trial of Sinemet, which helped relieve some of her symptoms. She does not have seizures.
Clinicians and researchers have identified the following genetic change to be causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us
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