TSC is a complex genetic disease which can be inherited from one parent with TSC or a result of a spontaneous genetic mutation. Children have a 50% chance of inheriting TSC if one of their parents has this condition. At this point, only one-third of TSC cases are known to be inherited. The other two-thirds result from a spontaneous and unpredictable mutation occurring during conception or very early development of the human embryo. It is characterized by seizures and tumor growth in the brain, kidneys, heart, eyes, lungs and skin. Developmental delay, mental retardation and autism may also be associated with the disease. The disease affects some people severely, while others are mildly affected. Nearly 1 million people worldwide are known to have Tuberous Sclerosis. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. Approximately 39 percent of women with TSC also have LAM.
- Genetics Home Reference: What is Tuberous Sclerosis Complex? – find information on TSC
- Herscot Center for Children and Adults with TSC at Massachusetts General Hospital – Individuals with TSC have ready access to experts in the specific manifestations of TSC, as well as social workers and genetic counselors to provide support
- Living with TSC – information about the range of medical consequences of tuberous sclerosis complex throughout one’s lifetime
- Tuberous Sclerosis Alliance – provides information and access to resources to those affected by TSC
- Tuberous Sclerosis Complex International (TSCi) – a worldwide association of TSC organizations. Find a TSC organization near you.