STXBP1 and Related Disorders

STXBP1 and related disorders are a spectrum of neurodevelopmental conditions characterized by seizures and developmental delay. Patients may present with a wide variety of symptoms and severity.

Key characteristics and symptoms of STXBP1 and related disorders

Key characteristics

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.

Other Common Symptoms
  • Abnormal muscle tone
  • Lack of speech or severe speech impairment
  • Behavior problems
  • Movement problems
  • Intellectual disability
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How are STXBP1 and related disorders diagnosed?

STXBP1 and related disorders are suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the STXBP1 gene.

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How are STXBP1 and related disorders treated?

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.

AmbitCare can help you understand how rare disease might be part of your story.

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.

Join our community

Have additional questions? Contact an AmbitCare Ambassador by phone at 508-203-6891 or by email at info@ambitinc.com today.

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.

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