General Information About Angelman Syndrome
Disease Details and Frequently Asked Questions
It is a genetic syndrome that disrupts the development of the nervous system, proceeding with severe learning difficulties and delays in motor skills, where patients typically have a cheerful and smiling expression.
The main cause of the syndrome is the mutation, damage, or complete absence of the UBE3A gene segment on the 15th chromosome inherited from the individual's mother.
Developmental delays starting in infancy, inability to speak at all or using very few words, loss of balance while walking (ataxia), epileptic seizures, an excessive interest in water, and unprovoked/frequent bursts of laughter.
Patients possess a severe degree of intellectual disability. Most patients cannot speak throughout their lives, but they can learn to communicate using sign language or alternative communication methods.
Clinical symptoms usually arouse suspicion around 1-2 years of age. An EEG is taken for abnormalities in brain waves. A definitive diagnosis is made with advanced genetic DNA tests that detect the abnormality in the UBE3A gene.
There is no cure that corrects the genetic mutation. Anticonvulsant medications are given to prevent epileptic seizures. Physiotherapy, speech therapy, and behavioral training maximize the patient's potential.
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