What Is Angelman Syndrome

Angelman Syndrome: A Rare Genetic Disorder

What is Angelman Syndrome?

Angelman syndrome is a rare genetic disorder that primarily affects the nervous system. It is caused by a mutation in the UBE3A gene, which is located on the 15th chromosome. The mutation leads to a lack of functional UBE3A protein, which is essential for normal brain development and function.

Symptoms of Angelman Syndrome

The symptoms of Angelman syndrome vary depending on the individual, but they typically include:

• Developmental delays
• Speech and language difficulties
• Intellectual disability
• Motor coordination problems
• Seizures
• Sleep disturbances
• Behavioral problems

Treatment for Angelman Syndrome

There is no cure for Angelman syndrome, but there are treatments that can help to improve the symptoms. These treatments include:

• Early intervention services
• Special education
• Speech and language therapy
• Physical therapy
• Occupational therapy
• Medications

Outlook for Individuals with Angelman Syndrome

The outlook for individuals with Angelman syndrome varies depending on the severity of their symptoms. With early intervention and appropriate treatment, many individuals with Angelman syndrome can live full and happy lives. They may be able to attend school, work, and participate in social activities.