Angelman syndrome is a rare neurogenetic disorder that primarily affects the nervous system, leading to developmental delays, intellectual disability, and distinctive behavioral characteristics. It is caused by a genetic abnormality or mutation in the UBE3A gene on chromosome 15. Angelman syndrome is typically diagnosed during early childhood, and its prevalence is estimated to be around 1 in 12,000 to 20,000 individuals.
Common features of Angelman syndrome include severe speech impairment or absence of speech, motor and balance difficulties, seizures, hyperactivity, and a unique behavioral phenotype characterized by a happy demeanor, frequent laughter, and a fascination with water. Individuals with Angelman syndrome often exhibit a characteristic movement disorder with jerky and puppet-like movements.
