Luke's Tuberous Sclerosis Page
Tuberous Sclerosis, a definition |
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Neurologic Aspects New!A Model to Understand Seizures Seizure Types Seizure Medications Genetic Aspects Cardiologic Aspects Ophthalmologic Aspects Renal Aspects Dermatologic Aspects Behavioral Aspects Tuberous Sclerosis is a genetic disorder which causes benign tumors to appear in many major organs of the body. Tuberous Sclerosis Complex (TSC) is extremely variable in nature, causing severe or life-threatening problems in some, only small problems or inconveniences in others, and still others do not even know whether they have the gene. Most cases of TSC are first noticed early in life due to the onset of seizures. These seizures are caused by growths involving the brain. The seizures and/or growths often lead to delayed development and mental impairment. TSC is one of the major causes of mental retardation in children. The tumors in TSC are usually hamartomas which are collections of normal cells which grow in an abnormal place. Most commonly, they occur in the brain, heart, kidneys, eyes and on the skin. When they grow in a critical area of these organs, problems arise. When TSC was first described, it was thought to cause seizures, mental impairment and skin rashes in all of its victims. We know now that many people with TSC have normal intelligence, no seizures and no outward manifestations of the disease. Tuberous Sclerosis Complex is thought to be caused by an abnormal part of chromosome 9 or 16. Sometimes this abnormality is spontaneous in a child and both of the parents have apparently normal genes. Once the defect arises in a gene, it is passed along as an autosomal dominant disorder .(Which means that the person with TSC has a 50% risk of passing the disorder on to their children.) No blood test or obvious sign is available to diagnose TSC but the combinations of symptoms and these tumors lead to the diagnosis. It is difficult to determine just how many people in the world are affected by TSC because it affects so many people differently. Initially the incidence, or number of new births with tuberous sclerosis was thought to be about one in thirty thousand. More recently, estimates are closer to one in six thousand in live births, which is similar to better known diseases like cystic fibrosis. This would translate to over one million cases of TSC worldwide. The current level of knowledge of TSC is much greater now that it was just a few years ago. Research is currently being done that will help decrease the effect of TSC and improve the lives of affected children. Current projects include the mapping of the affected genes and creating tests for early diagnosis. Others aim at therapy using tuberin (a protein which is deficient in TSC patients) or at genetic therapy which could alter or replace the affected gene. Research in these areas also helps the fight against other genetic and pediatric disorders. This home page is intended to be a family resource for families affected by Tuberous Sclerosis. It does not intend to constitute medical advise. Viewers are warned not to take any action with regard to medical treatment relying on the information provided on this page without first consulting the patient's physician.
Deanna Runyan-Wall E-mail address: deannadawn@lukets.org Last updated: April 5, 2008 Created: December 5, 1996 |
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A SPECIAL NEEDS MOM BLOG JOYFUL & JUGGLING
WATCH LUKE'S FOOTBALL TOUCHDOWN ON INSIDE EDITION
LUKE'S Tuberous Sclerosis LIFE STORY
A MOTHER'S JOURNAL of Accepting Tuberous Sclerosis
PRACTICAL FAMILY RESOURCES |
