How do we know if our baby is affected by this disorder?
In order to determine if SLC13A5 is the cause of your child’s seizures, a blood test can be performed. While the number known diagnosed cases are growing, we believe there are still many people who are subject to the disorder but have not received a formal diagnosis. The first and most pervasive symptom, seizures, happens within the first day(s) of life.
While the disease is becoming known to a greater number of researchers, it still is relatively unknown to the caregiving medical community. If your child experiences seizures at birth that your medical care team cannot determine the cause of, you should ask to be screened for SLC13A5. For assistance with diagnosis, contact us at firstname.lastname@example.org.
Other symptoms include:
- Seizures beginning within first few days of birth
- Persistent seizures of multiple types
- Severe expressive language delay, with better receptive language
- Low muscle tone (hypotonia) and a lack of muscle control or coordination of voluntary movements, such as walking or picking up an object (ataxia)
- Episodes of body stiffening or weakness lasting a few minutes to a few hours
- Poor development of teeth (hypodontia) or weakness of teeth enamel
- Brain MRI that appears normal or has subtle changes in the white matter
- Mildly elevated Citrate levels in blood