Symptoms progress rapidly, and the child usually dies before 3 years old. Risk factors include having a Ashkenazi Jewish background. In this group, the incidence is 1 out of 2,500 people. There is no known way to prevent this disorder. However, genetic testing can detect carriers of the gene for this disorder.
Prenatal diagnosis is possible from amniotic fluid studies.
The stress of illness can often be helped by joining support groups where members share common experiences and problems. Children affected with this disease have progressive symptoms and usually die by 3 years old. Call for an appointment with your health care provider if your child experiences a seizure lasting less than 2-3 minutes or has other noticeable behavioral changes. The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.