Tuberous Sclerosis Complex (TSC)

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.

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