Although most people with TSC have tubers and may develop other abnormal growths in the brain and other organs, fortunately many are mildly affected and lead full and productive lives. Early diagnosis, followed by careful monitoring of and intervention in the medical condition of individuals with TSC is key to a positive outcome. Recent advances in imaging technology have made it possible for physicians to track the progress of internal TSC-related lesions and to intervene before abnormalities can cause significant problems. Specialists also successfully treat a wide range of many of the disorder's symptoms, including seizures, behavioral disorders, and various skin abnormalities.
While researchers at medical institutions around the world continue to search for better treatments for the symptoms of TSC, they are also exploring approaches that may ultimately lead to a cure for the disorder. With these objectives in mind, physicians and scientists are identifying the various types of mutations that lead to TSC and determining if these mutations give rise to a particular range of symptoms. They are searching for other genes, generally called modifier genes, that may also play a role in TSC's variability, predisposing some individuals to particularly severe symptoms. They are also identifying steps in the protein pathway, in which hamartin and tuberin play a role, and are attempting with experimental drugs to regain control of cell growth and proliferation.
It's not known whether all of this research will ultimately produce a cure for TSC. However, it is certain that the tireless work of physicians and scientists who study TSC will lead to continued improvements in the lives of people with the disorder.
For more information about TSC research, see Research.
It is important to remember:
- TSC is a genetic disorder that causes benign tumors and other abnormalities to develop in all major organ systems.
- Symptoms vary widely from one individual to the next and typically change over time.
- TSC is seen in approximately 1 in every 6,000 individuals, regardless of race, ethnicity, or gender.
- TSC is caused by a permanent change, or mutation, in one of two genes, TSC1 or TSC2, that may be passed from parent to offspring or arise spontaneously during development.
- TSC mutations interfere with the ability of cells to regulate cell growth, proliferation, and differentiation.
- The disorder was first described in detail in 1880, based on neurological findings and brain abnormalities called cortical tubers.
- Cortical tubers are firm, tuber-shaped growths that are found in the cerebral cortex of most people with TSC and are thought to cause symptoms such as seizures, cognitive dysfunction, and behavioral disorders.
- Despite a wide range of symptoms common to TSC, most people with the disorder experience normal life expectancy.
- Early diagnosis and intervention is the best way to minimize and manage symptoms of TSC.
- Researchers are exploring both new ways to treat and possibly cure TSC.