Sep 25, 2019
The participant was born at 38 weeks. During the pregnancy, there was less amniotic fluid than normal (oligohydramnios). Around 8 months old, the participant’s parents noticed delays in her development and that she would fall over frequently. Since then, she has made slow developmental progress.
At 10 months old, the participant was seen by Neurology and was noted to have low muscle tone (hypotonia). Around the same time, she was found to have uncontrolled eye movements (nystagmus) as well as staring spells. During these starting spells, her eyes roll back, and she is unresponsive for about 10 seconds. These continue to happen daily, up to 10 times per day.
At 15 months old, the participant said her first word, and currently can say about 10-15 words. She has significant balance issues and is currently unable to stand or walk independently.
The participant attends preschool 3 days a week and has an Individualized Education Program (IEP). She is a very social and happy child.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.