Jun 26, 2018
The participant’s parents first noticed delays in her motor development at 6 months. These delays, and other delays in her development, became more noticeable over time. At 7 years old, she began to have frequent drop attacks, which were eventually identified as seizures. She was started on valproic acid, which did not help her symptoms. At 8 years old, she had an unexplained episode of constant seizures, which required admission to the hospital. The seizures were finally stopped with a 2-day pharmacologic coma. Since this time, she has been on Keppra and has not had further seizures.
Some of the participant’s other symptoms include involuntary muscle contractions (dystonia), frequent falls, and poor weight gain. Overall, she has been gaining skills over time. She is very pleasant and cooperative. She does not use words to communicate, but rather guides others to what she needs.
Clinicians and researchers have identified the following genetic change to be 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.