Síndrome de Angelman: Aspectos Clínicos, Genéticos, Neurológicos

Abstract

Angelman Syndrome is a rare neurogenetic disorder caused by the loss of expression of the UBE3A gene in the 15q11-13 region. It is characterized by severe developmental delay, intellectual disability, speech impairment, distinctive behavioral patterns, sleep disturbances, seizures, and motor abnormalities related to cerebellar and cortical dysfunction. This article provides an overview of the clinical, neurological, and genetic aspects of the condition and presents a case report of an adult patient with typical manifestations. The study reinforces the importance of early diagnosis, multidisciplinary management, and understanding of the molecular mechanisms involved, which are essential for optimizing care and improving quality of life.