Tuberous sclerosis, type 2

Overview

Type of disease: Genetic, autosomal dominant | Intellectual disability (no physical disability) | Rare Condition or Disease

Tuberous Sclerosis Type 2 (TS2) is a genetic disease that causes tumors in different areas of the body. Typically, the tumors are benign although there is a risk of cancerous tumors. They can form in other organs like the kidney, heart, eyes, lungs, and skin. The tumors that form in the brain, heart, and kidneys can cause problems. Individuals with the disease may have seizures, developmental or behavioral disabilities, skin problems, or kidney disease. Developmental and behavioral disabilities mean that a child may grow and mature at a slower rate than normal children. There is a wide variant of severity for patients with TS2.

Tuberous Sclerosis Type 2 is a rare genetic disease affecting about one in six thousand infants. Tuberous Sclerosis Type 2 is an autosomal dominant genetic disease caused by mutations in TSC2. This means the condition is inherited through genes (passed through families). We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. If one parent has the mutation for this gene, there is a 50% chance their child will develop this condition. TS2 also have a high rate of denovo mutations. Denovo mutations are new mutations that happen in a child and are not found in either parent. There is no cure for Tuberous Sclerosis Type 2 although there is medication for symptoms including seizures. Speak with your doctor about the best personal plan of care for you or your child.

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