Seizures: For patients with STXBP1 and related disorders, seizures often occur in the first year of life and can be difficult to control.
Developmental Delay: Low muscle tone, lack of head control, and delayed rolling over or crawling may be some of the first developmental delays seen in patients with STXBP1 and related disorders.
STXBP1 and related disorders are suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the STXBP1 gene.
Currently there is no cure for STXBP1 and related disorders. Patients are treated for their symptoms, not for the underlying cause of the disease. Due to the wide spectrum of severity and symptoms, treatment plans are often unique to each individual. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for STXBP1 and 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.
Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.
* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.