Angelman Syndrome: A Rare Condition Affecting the Nervous System

Understanding Angelman Syndrome

Angelman syndrome is a rare genetic condition that primarily affects the nervous system. It is caused by a change in a gene called UBE3A, which is responsible for the proper functioning of the nervous system.

Causes of Angelman Syndrome

In about 70% of cases, Angelman syndrome occurs when parts of the UBE3A gene are inactive or missing. This can be inherited from the mother, a random change during development, or a deletion on the father's chromosome 15.

Symptoms of Angelman Syndrome

Symptoms of Angelman syndrome can vary in severity, but common features include:

Physical Characteristics

• Small head and specific facial appearance
• Movement difficulties and balance problems
• Seizures

Cognitive and Behavioral Characteristics

• Severe developmental delays
• Impaired speech and communication
• Intellectual disability
• Happy and often excitable demeanor