Angelman Syndrome

Also known as: AS.

What is Angelman syndrome?

Angelman syndrome is a rare genetic disorder that begins to show symptoms around 6 to 12 months of age. Children with Angelman syndrome have global developmental delays, seizures and excitable, happy personalities as a general rule.
 

What causes Angelman syndrome?

Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene

Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15.
 

What are the symptoms of Angelman syndrome?

Angelman syndrome signs and symptoms include:

  • Developmental delays, including no crawling or babbling at 6 to 12 months

  • Intellectual disability

  • No speech or minimal speech

  • Difficulty walking, moving or balancing well (ataxia)

  • Seizures

  • Microcephaly

  • Happy, excitable personality

 

What are Angelman syndrome care options?

There is no cure for Angelman syndrome. Treatment is focused on symptoms and includes things like physical therapy, anti-seizure medications, behavior therapy and other treatments.


Reviewed by: Parul B Jayakar, MD

This page was last updated on: 5/1/2018 3:13:39 PM