Tuberous sclerosis, or tuberous sclerosis complex (TSC), is a complex genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. Approximately one-third of known cases are inherited; the remainder occur as a result of genetic mutation during conception or very early embryo development. The condition can manifest in many ways, but the effects that most strongly impact quality of life are seizures, developmental delay, intellectual disability, and autism.
There is no cure for the disorder, but early diagnosis and intervention can help overcome developmental delays, and certain medications and even surgery are effective at shrinking or removing, respectively, certain tumors in the brain. Although TSC tumors aren’t cancerous, they often can cause serious problems by inhibiting proper function of the organs in which they develop, and they can lead to behavioral changes, nausea, headaches, and a number of other symptoms. Most people with TSC will live a normal life span, though untreated complications in certain organs can lead to severe difficulties and even death. People with TSC should be monitored by a physician throughout their life. TSC shares some similarities with lymphangioleiomyomatosis (LAM), a rare lung disease that affects middle-aged women and causes the growth of cysts in the lungs.
The UAB Tuberous Sclerosis Clinic was the first of its kind in the Southeast, serving patients with an established or suspected diagnosis of this complex genetic disease. We employ an interdisciplinary team of physicians that includes experts from genetics, neurology, dermatology, and genetic counseling, plus we have ready access to consultants in endocrinology, pulmonology, nephrology, neurosurgery, ophthalmology, and more. The clinic provides patients and their families with access to medical providers familiar with the healthcare guidelines and medical or emotional concerns common among patients with tuberous sclerosis (TSC). Our providers strive to offer the most current information on treatment and research in the field. There are many research opportunities available to TSC patients, and UAB is a participating site in many of these studies. So as a UAB patient, you may have access to cutting-edge therapies that are not available at other medical centers.
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