Angelman syndrome

Disease Overview

Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent.[1482] Treatment is aimed at addressing each individual’s symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.[1481] 

Synonyms

• AS
• Happy puppet syndrome (formerly)