Angelman Syndrome: A Rare Genetic Condition

What is Angelman Syndrome?

Angelman syndrome (AS) is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. AS is caused by a mutation in the UBE3A gene, which is located on the 15th chromosome. The UBE3A gene produces a protein that is important for the development of the nervous system. Mutations in the UBE3A gene can disrupt the production of this protein, which can lead to the symptoms of AS.

Symptoms of Angelman Syndrome

The symptoms of AS can vary depending on the severity of the mutation in the UBE3A gene. Some of the most common symptoms of AS include:

• Developmental delays
• Intellectual disability
• Speech and language problems
• Movement problems
• Seizures
• Behavioral problems

Treatment for Angelman Syndrome

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

• Speech therapy
• Physical therapy
• Occupational therapy
• Medication

Prognosis for Angelman Syndrome

The prognosis for people with AS varies depending on the severity of their symptoms. Some people with AS may be able to live independently, while others may require lifelong care.

What can you expect in the future?

There is no cure for AS, but research is ongoing to develop new treatments. These treatments may offer hope for people with AS to live longer, healthier, and more fulfilling lives.

What can we do for you?

We are a charity dedicated to curing Angelman Syndrome with a specific focus on the UK. Our mission is to contribute to research, create the best possible support and services for people with Angelman Syndrome, and educate professionals and the public.

We offer a range of services to help people with AS and their families, including:

• Information and support
• Financial assistance
• Advocacy
• Research

To learn more about Angelman Syndrome or to find out how you can support our work, please visit our website.

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