What is Tuberous Sclerosis Complex (TSC)?

TSC is a complex genetic condition caused by an alteration in a gene. People with TSC have growths, sometimes called tubers or lesions in different organs of the body (brain, heart, eyes, skin, kidneys, lungs) and may have epilepsy, learning disabilities, autism spectrum disorder and kidney problems. Symptoms vary from one person to another with some people showing very few symptoms and others more severely affected. See How TSC affects the body for more information.

How common is it?

Tuberous Sclerosis Complex is more common than generally recognised. This is partly because there are people with the condition who remain undiagnosed, usually because they are symptom free. It is thought to affect around 1 in 6,000 new births and there are around 8,000 affected people in the UK alone.

What is the outlook?

The effects of TSC are very variable and the outlook depends upon the extent of organ involvement and appropriate monitoring and care. About 50% of people with TSC are intellectually unimpaired and lead normal lives, with the remainder having learning disabilities to a greater or lesser extent. Contrary to what was believed for many years, the prognosis for patients with TSC is very good.

The life expectancy for the majority of people with TSC is normal, even for those with severe learning disabilities and epilepsy.

What is the treatment? Is there a cure?

Unfortunately there is no cure for TSC but there is treatment for a number of its symptoms and patients should be monitored regularly so that symptoms can be picked up and treated appropriately.

Page created by TSA staff and reviewed by Dr Chris Kingswood FRCP, Royal Sussex County Hospital, May 2008