What is tuberous sclerosis?

December 5, 6:08 PMHartford Special Needs Kids ExaminerDanna Mann

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Tuberous sclerosis is a group of two genetic disorders characterized by problems with the skin, brain/nervous system, and kidneys. There is also a predisposition to tumors. The diseases are named after a characteristic abnormal growth in the brain, which takes the shape of a tuber or root.  Two genes have been identified that can cause tuberous sclerosis complex. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene is located on chromosome 9 and is called the hamartin gene. The other gene, TSC2, is located on chromosome 16 and is called the tuberin gene. Researchers are now trying to determine what these genes do and how a defect in these genes causes tuberous sclerosis complex.

At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Almost 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. TSC is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.

Some people are affected severely, while others are so mildly affected that it often goes undiagnosed. In some cases people with TSC experience developmental delay, mental retardation and autism. Although, there are also many people with TSC living independent, healthy lives.

The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country.  Scientists are putting  focus on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC.  Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new treatments, methods of prevention, and, ultimately, a cure.