What is the prevalence of Tuberous Sclerosis?

Tuberous Sclerosis (TS) is a rare genetic disorder that affects multiple organ systems in the body. It is estimated to occur in approximately 1 in 6,000 to 1 in 10,000 live births worldwide, making it relatively uncommon. TS can affect individuals of all races and ethnicities, and both males and females are equally affected.

The prevalence of TS may vary across different populations and regions. Studies have shown that the disorder is more prevalent in certain communities, such as Ashkenazi Jews and individuals from the Caribbean island of Curaçao, where the prevalence is higher than the global average.

TS is characterized by the growth of benign tumors, known as hamartomas, in various organs including the brain, heart, kidneys, lungs, and skin. These tumors can cause a range of symptoms and complications, depending on their location and size. Common symptoms of TS include seizures, intellectual disability, developmental delays, skin abnormalities, and kidney problems.

Early diagnosis and intervention are crucial in managing TS and improving outcomes for affected individuals. Genetic testing and clinical evaluation are typically used to diagnose TS, and treatment options focus on managing symptoms and preventing complications.