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
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