Intellectual disability: All patients with SYNGAP1 have some form of intellectual disability that ranges from moderate to severe. Some patients are diagnosed with autism.
Epilepsy: About 2/3 of patients with SYNGAP1 experience seizures. In some cases, seizures are easy to control while others may require multiple medications to gain seizure control.
A diagnosis of SYNGAP1 is suspected based on symptoms but is confirmed through genetic testing that identifies a mutation in the SYNGAP1 gene.
Currently there is no cure for SYNGAP1. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. Researchers are analyzing patient data to better understand the condition so a cure may be found.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.