Angelman Syndrome: A Genetic Condition that Affects the Nervous System
Understanding Angelman Syndrome
Angelman syndrome (AS) is a rare neurodevelopmental disorder that mainly affects the nervous system. It is caused by a deletion or mutation in the UBE3A gene, which is located on chromosome 15.
Symptoms of Angelman Syndrome
Individuals with AS typically have developmental delays, intellectual disability, and speech impairments. Other common symptoms include:
- Small head size (microcephaly)
- Distinct facial features, including a wide mouth, thin lips, and prominent teeth
- Movement disorders, such as tremors and ataxia
- Sleep disturbances
- Seizures
Causes of Angelman Syndrome
AS is caused by a genetic change in the UBE3A gene. This gene provides instructions for making a protein called ubiquitin ligase E3A, which is involved in breaking down proteins in the body. A mutation or deletion in the UBE3A gene leads to a lack of this protein, resulting in the symptoms of AS.
Conclusion
Angelman syndrome is a rare and challenging disorder that affects individuals both physically and intellectually. Understanding the symptoms and causes of AS is crucial for providing early intervention, support, and care for those affected. Continued research and advancements in treatment options offer hope for improving the quality of life for individuals with AS and their families.
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