Tuberous Sclerosis is a rare genetic disorder that affects various organs in the body. It is characterized by the growth of noncancerous tumors, called tubers, in different parts of the body, including the brain, heart, kidneys, lungs, and skin.
These tumors can cause a range of symptoms and complications, depending on their location. In the brain, they can lead to seizures, developmental delays, intellectual disabilities, and behavioral problems. Cardiac tumors may result in arrhythmias or heart failure. Renal tumors can cause kidney dysfunction, while lung tumors may lead to respiratory difficulties.
Tuberous Sclerosis is typically diagnosed in childhood, although symptoms can vary widely among affected individuals. It is caused by mutations in either the TSC1 or TSC2 gene, which are responsible for regulating cell growth and division. Inheritance of the disorder can be either autosomal dominant or occur spontaneously.
While there is no cure for Tuberous Sclerosis, treatment focuses on managing symptoms and preventing complications. This may involve medications to control seizures, behavioral therapies, and surgical interventions to remove tumors when necessary.