Angelman Syndrome: A Rare Neuro-Genetic Disorder
Understanding Angelman Syndrome
Angelman syndrome (AS) is a rare neuro-genetic disorder characterized by severe developmental delay and intellectual disability. It is caused by a loss or malfunction of a particular gene, affecting the nervous system and leading to a specific set of symptoms.
Key Features of Angelman Syndrome
Individuals with AS typically present with a small head circumference and distinctive facial features, including a happy or smiling demeanor. They often experience speech impairment, severely limiting their ability to communicate verbally.
Causes of Angelman Syndrome
AS is caused by a genetic change in a gene called UBE3A, which plays a crucial role in brain development and function. The loss or alteration of this gene leads to the neurological symptoms associated with the disorder.
Prevalence and Impact
AS is a rare condition, affecting approximately 1 in 15,000 live births worldwide. It has a significant impact on the lives of individuals and their families, requiring specialized care and support throughout their lifetimes.
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