Angelman Syndrome: Unpacking the Unique Characteristics
A Journey into a Complex Neurogenetic Disorder
Understanding the Core Features
Angelman syndrome (AS) is a rare neurogenetic disorder characterized by a distinct set of features. Affecting approximately one in 15,000 individuals, AS emerges due to a genetic alteration specifically affecting the maternal copy of a gene located on chromosome 15.
Distinguishing Characteristics
AS shares some characteristics with other developmental disorders, such as cerebral palsy and autistic spectrum disorder. However, there are certain key features that differentiate it from these conditions:
- Developmental delays in various areas, including motor skills, communication abilities, and cognitive development
- Distinctive motor patterns such as ataxic gait and flapping hand movements
- Unique facial features, including a wide mouth, prominent chin, and full cheeks
- A happy and excitable demeanor
- Sleep disturbances
- Epileptic seizures in some cases
Genetic Basis
The genetic basis of AS lies in the alteration of the maternal copy of a gene called UBE3A, located on chromosome 15. This alteration can occur in various forms, including deletions, mutations, or disruptions.
The absence of the functional maternal copy of UBE3A leads to an imbalance in gene expression, resulting in the characteristic features of Angelman syndrome.
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