Angelman Syndrome: A Rare Neurodevelopmental Disorder
Definition and Causes
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by a loss of the maternally-inherited copy of the UBE3A gene on chromosome 15. This deficiency or abnormal function of the UBE3A gene leads to developmental delays, intellectual disability, and distinct physical and behavioral characteristics.
Symptoms
AS is characterized by a range of symptoms, including: * Microcephaly (small head size) * Seizures * Ataxia (difficulty with coordination and balance) * Speech and language impairments * Sleep disturbances * Gastrointestinal problems * Stereotypical behaviors (e.g., hand flapping, tongue thrusting)
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