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.
Intended for U.S. audiences only
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Rare Experiences
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Gabrielle
Angelman syndrome (AS)“Angelman syndrome (AS) is part of your child, but it does not define who they are.”
Mason
Angelman syndrome (AS)“I’m incredibly hopeful for what the future holds and excited to brag about all of Mason’s future accomplishments.”
