Seizures: Patients may present with seizures that are not associated with fever within the first year of life.
Intellectual Disability: Patients may present with missed developmental milestones, intellectual disability, and autism spectrum disorder.
SCN2A related disorders are suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the SCN2A gene.
Currently there is no cure for SCN2A related disorders. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for SCN2A related disorders.
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.