Angelman Syndrome

Angelman syndrome is a rare neurogenetic condition characterized by seizures and development delays.

Key characteristics and symptoms of Angelman syndrome (AS)

Key SYMPTOMS

Seizures: Patients with AS may experience different types of seizures, typically before the age of 3.

Developmental Delay: Patients with AS may present with initial symptoms like lack of crawling or lack of babbling.

Other Common Symptoms
  • Lack of speech or severe speech impairment
  • Movement difficulties
  • Feeding problems
  • Constipation
  • Behavior problems
  • Difficulty sleeping
OTHER POTENTIAL characteristics

Happy, excitable demeanor: Patients with AS are frequently laughing or smiling and easily excited.

Fascination with water: Patients with AS can have a unique fascination with water.

image of find icon

How is Angelman syndrome diagnosed?

A diagnosis of Angelman syndrome is confirmed through genetic testing that identifies an abnormality that affects the UBE3A gene.

image of medication icon

How is Angelman syndrome treated?

Currently there is no cure for Angelman syndrome. 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 Angelman syndrome including possible gene therapies.

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.

image fo prefooter_sqaures Dots