What is Angelman Syndrome?
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system.1
What Causes It?
Typically, people inherit a working copy of the UBE3A gene from each parent (so they have two copies). In certain parts of the brain, only the copy inherited from a person’s mother (the maternal copy) is active. Angelman syndrome occurs when there is a mutation (change) or deletion in a person’s maternal UBE3A gene, so they have no working copies of the gene in those areas of the brain.1
What Are Some Common Symptoms?1
- Developmental delay
- Behavioral problems
- Intellectual disability
- Severe speech impairment
- Movement and balance problems (ataxia)
- Recurrent seizures (epilepsy)
- Small head size (microcephaly)
How Many People Have It?
Angelman syndrome affects an estimated 1 in 15,000 births.1
- Angelman Syndrome. MedlinePlus website. https://medlineplus.gov/genetics/condition/angelman-syndrome/. Published October 29, 2019. Accessed December 5, 2019.
Upcoming Community EventsParticipate in Events Near You
During this week the Osteogenesis Imperfecta (OI) community members educate and raise awareness on the condition. They celebrate Wishbone Day, the international Day of Awareness for OI.
Every year on May 15, the mucopolysaccharidosis (MPS) and mucolipidosis (ML) community comes together to recognize those diagnosed, think about the loved ones who have been lost, thank doctors and […]
The OIFE Annual General Meeting (AGM) will be held in Stockholm Sweden from June 10-11, 2023. All organizations are invited to attend and to speak at the annual general meeting, […]
AS Patient Advocacy Groups*
*These organizations are an incomplete listing of rare disease advocacy groups and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].