Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that causes non-malignant tumours to develop in organs such as brain, heart, eyes, skin, lungs and kidneys. TSC is often associated with epilepsy, learning disabilities, skin abnormalities, breathing difficulties, a build-up of fluid on the brain (hydrocephalus) and autism.


What causes tuberous sclerosis?

TSC is caused by a mutation in the genes either during conception or pregnancy. About one third of cases are hereditary. These mutated genes regulate cell growth and the mutation allows for uncontrolled growth that spreads into tumours throughout the body. The two identified genes that are responsible for TSC are TSC1 gene, the hamartin gene, located on chromosome 9. The other gene, TSC2, the tuberin gene, is located on chromosome 16.


How tuberous sclerosis is treated

There is no cure for TSC, but there are treatments for many of problems caused by the condition.

Early recognition and diagnosis is therefore critical to overcoming developmental delays. Early support for seizure control yields better results than good seizure control with children. A range of medication is often used as well as certain technologies that can help minimize the effects of strong seizure activity. Additionally, advancements in TSC research continue to provide alternative therapeutic options.


Outlook

Many people with TSC live healthy, independent lives and are successful in a wide-range of professions such as doctors, solicitors, teachers and scientists. But for others the condition has profound impact on their daily lives and require life-long care.

Most individuals will go to have a normal lifespan but for others complications that are life threatening can develop which include a loss of kidney function, lung infections (bronchopneumonia) or enter into an unarousable seizure (status epilepticus).

For more information visit: www.tsalliance.org