What is the prognosis? Within the Federal Government, the leading supporter of research on TSC is the National Institute of Neurological Disorders and Stroke (NINDS). It’s also the leading genetic cause of both epilepsy and autism. Surgery may be needed in case of complications connected to tubers, subependymal nodules, or SEGA, as well as in risk of hemorrhage from kidney tumors. This is called hydrocephalus. Only one of the genes needs to be affected for TSC to be present. Is there a local support network for families affected by this condition. What are the signs and symptoms of TSC? MMPH is a more benign tumor that occurs in men and women equally. Scientists believe these proteins act as growth suppressors by inhibiting the activation of a protein called mTOR. Other skin features that are not unique to individuals with TSC, including. A small number of people with tuberous sclerosis develop large brain tumours that grow big enough to obstruct the flow of cerebrospinal fluid through the brain. Between 1 million and 2 million people around the world have this condition. National Institute of Neurological Disorders and Stroke Diagnosing TSC is based upon clinical criteria. When you have TSC, all of that can change throughout your life. ", FDA: "Everolimus for Tuberous Sclerosis Complex (TSC). A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. Angiomyolipomas are the most common kidney lesions in TSC and can be found in people without TSC. TSC is caused by defects, or mutations, on two genes—TSC1 and TSC2. Office of Communications and Public Liaison Skin abnormalities vary widely in individuals with TSC. The first clue may be the presence of seizures or delayed development. Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. Is TSC inherited? Tuberous Sclerosis Australia (TSA) empowers people affected by TSC through access to the best treatment options, up to date information and support. Continued monitoring by a physician experienced with TSC is important. LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. If your child has TSC, remember they're still a little one. It is characterized by development of non-malignant tumours and affects many organs in the body including the central nervous system. It was discovered over a century ago and a lot of information is still yet to be found. About a third of people inherit TSC from a parent. , including aggression, sudden rage, attention deficit hyperactivity disorder, acting out, obsessive-compulsive disorder, and repetitive, destructive, or self-harming behavior occur in children with TSC and can be difficult to manage. Yet these parents can have a child with TSC because a portion of one of the parent's reproductive cells (sperm or eggs) can contain the genetic mutation without the other cells of the body being involved. WebMD does not provide medical advice, diagnosis or treatment. If TSC is affecting your kidneys, doctors may be able to block or reduce blood flow to kidney tumors, or give you drugs to help shrink them. are most common in the brain, kidneys, heart, lungs, and skin. Date last modified: Wed, 2020-05-13 18:07, Tuberous sclerosis (also called tuberous sclerosis complex, or TSC). Tuberous Sclerosis Alliance: "Signs of TSC," "What Is TSC?" © 2005 - 2019 WebMD LLC. Latest News 24 Nov 2020 Legal planning update. NINDS-funded scientists are using animal or cell-based models to understand: In one NINDS-supported clinical trial researchers are studying the effectiveness of early intervention with vigabatrin, an antiseizure medication, on preventing seizures and improving neurocognitive outcomes in infants with TSC. People with TSC can experience many different types of seizures including focal onset or partial seizures, tonic-clonic seizures, tonic seizures, atonic seizures, myoclonic seizures, and absence seizures. You get TSC because of a problem in your genes. If you have tuberous sclerosis complex (TSC), your cells don’t stop dividing when they should. How to use tuberous in a sentence. Most cases represent new (sporadic or de novo) gene mutations, with no family history of the disease. What is Tuberous Sclerosis Complex? Symptoms usually show up early, shortly after birth. Laser treatment (dermabrasion) can help "refinish," or smooth your skin before tumors become large. NINDS, part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and the central nervous system. The TSC2 gene is on chromosome 16 and produces the protein tuberin. Get the latest research information from NIH: https://www.nih.gov/coronavirus It is mainly diagnosed when doctors see a tumor somewhere through CT scans or MRIs. Tuberous definition is - consisting of, bearing, or resembling a tuber. Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disorder caused by mutations in either TSC1 on chromosome 16 or TSC2 on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. The name tuberous sclerosis comes from the characteristic tuber or potato-like nodules in the brain, which calcify with age and become hard or sclerotic. The tumors most often affect the brain, skin, kidneys, heart, eyes and lungs. This community is sponsored by the Tuberous Sclerosis Alliance, an Inspire trusted partner. As a result, TSC can be unrecognized or misdiagnosed for years. Cancerous tumors are rare in TSC and those that do occur primarily affect the kidneys. Cancerous tumors are rare in TSC and those that do occur primarily affect the kidneys. These can include: Your treatment will depend on your particular case. A doctor experienced in the diagnosis of TSC should evaluate a potential patient. Skin abnormalities are present in all cases of tuberous sclerosis. Every case is different. NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Scifeed alert for new publications Never miss any articles matching your research from any publisher. All rights reserved. They'll want to know how they can support you. Treatments can help you manage your symptoms and live an independent life. The severity of symptoms varies widely. This makes a more detailed image than CT. An MRI scan can show how. This means you get tumors in lots of places in your body. As the genes mutate, they cause cells to divide at an alarming rate. The disease is a resultant of complex genetic abnormality. Lung lesions are present in about one-third of adult women with TSC and are much less commonly seen in men. Tuberous sclerosis: A genetic disorder that is characterized by abnormalities of the skin, brain, kidney, and heart. In cases of gonadal mosaicism, genetic testing of a blood sample might not reveal the potential for passing the disease to offspring. Tuberous sclerosis complex is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. The life expectancy of a person with tuberous sclerosis depends on the severity of the severity of the symptoms. 55 Kenosia Avenue It usually affects the central nervous system and can result in a combination of symptoms including seizures, impaired intellectual development, autism, behavioral problems, skin abnormalities, and kidney disease. Have you had seizures? The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs. Joining a support group can help you manage better. An MRI. , which develop from SEN and grow such that they may block the flow of fluid within the brain—causing a buildup of fluid and pressure that can lead to headaches and blurred vision. In other places in your body, you may have patches of different color skin and dark or light growths that might look like warts. Tuberous sclerosis complex (TSC) is a genetic disorder affecting cellular differentiation, proliferation, and migration early in development, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. Where can I get more information? Bleeding from angiomyolipomas may also occur, causing both pain and weakness. NIH’s Rare Diseases Clinical Research Network (RDCRN) furthers medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. The TSC1 gene is on chromosome 9 and produces a protein called, In rare instances, people acquire TSC through a process called. This series of X-rays creates detailed pictures of your body to check for tumors and other changes related to the disease. The term Tuberous Sclerosis is derived from the word ‘tuber’ referring to nodular growth pattern and ‘sclerosis’ which refers to calcification of these tumours with age. A major sign of having TSC is having skin abnormalities, such as … About one-third of children with TSC meet criteria for autism spectrum disorder. In rare instances, people acquire TSC through a process called gonadal mosaicism. Other rare kidney problems include renal cell carcinoma, developing from an angiomyolipoma, and oncocytomas, benign tumors unique to individuals with TSC. Your symptoms depend on how many tumors you have, how big they are, and where they are. Doctors target the places where the tumors are growing. Tuberous sclerosis is a genetic disease characterized by the presence of benign tumorsin the brainand other organs of the body. What is Tuberous Sclerosis? In your mouth, tuberous sclerosis can weaken the enamel on your teeth or make your gums overgrow. However, they can sometimes grow so large that they cause pain or kidney failure. Developmental delay occurs in about one-half to two-thirds of people with TSC. Some cases may cause disfigurement, necessitating treatment. The FDA has approved the drug everolimus (Afinitor®) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors, in addition to intractable seizures (seizures not controlled well by medicine). RDCRN includes the Developmental Synaptopathies Consortium which supports natural history, imaging, and biomarker identification for TSC and related neurodevelopmental disorders. What causes Tuberous Sclerosis? "Lung Involvement," "Brain Involvement," "Kidney Involvement," "Skin Involvement," "Eye Involvement. The most common skin abnormalities include: Kidney problems such as cysts and angiomyolipomas (benign growths of fatty tissue and muscle cells) occur in an estimated 70 to 80 percent of individuals with TSC. the mechanisms that lead to epilepsy and autism in TSC, shared mechanisms with related neuro-developmental disorders, and. Only one of the genes needs to be affected for TSC to be present. While the tumors typically are non-cancerous, they can cause serious health complications if left untreated. Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is an uncommon genetic disorder that causes noncancerous (benign) tumors — unexpected overgrowths of normal tissue — to develop in many parts of the body. LAM is a tumor-like disorder in which cells proliferate in the lungs, and there is lung destruction with cyst formation. What treatments are available? Hamartomas can grow in many parts of the body. Seizures also can be difficult to control by medication, and sometimes surgery or other measures are used. Symptoms range from mild—allowing people to live independent, productive lives—to more severe symptoms that can affect everyday life and even be life-threatening. If severe bleeding does not stop naturally, there may be severe blood loss, resulting in profound anemia and a life-threatening drop in blood pressure, warranting urgent medical attention. If I have another baby (or if my child has a child), what are the chances that the baby will have TSC? Most cause no problems but are helpful in diagnosis. Bethesda, MD 20892. How long do they last? Individuals who are severely affected can suffer from severe mental retardation and persistent epilepsy. It usually affects the central nervous system and can result in a combination of symptoms including seizures, impaired intellectual development, autism, behavioral problems, skin abnormalities, and kidney disease. With appropriate medical care, most individuals with the disorder can look forward to normal life expectancy. What are the possible complications from those treatments? Please consider making a tax deductible donation today. Danbury, CT 06810 Three types of brain lesions are seen in TSC: Tumors called cardiac rhabdomyomas are often found in the hearts of infants and young children with TSC, and they are often seen on prenatal fetus ultrasound exams. Over time, … NIH staff guidance on coronavirus (NIH Only). Tuberous sclerosis complex (TSC) is a genetic neurocognitive disorder caused by inactivation of the tumour suppressor genes hamartin (TSC1) or tuberin (TSC2) (1). Bone cysts, rectal polyps, gum fibromas, and dental pits may also occur. Children who inherit TSC may not have the same symptoms as their parent and may have either a milder or a more severe form of the disorder. What research is being done? For more information on neurological disorders or research programs funded by NINDs, contact the Institute's Brain Resources and Information Network (BRAIN) at: BRAIN Genetics. They are usually benign (non-cancerous). Tuberous sclerosis can cause seizures, delayed development, intellectual impairment and mental health challenges. TSC is a genetic disorder that causes tumors to form in various organs, primarily the brain, eyes, heart, kidneys, skin and lungs. Some cases may cause disfigurement, necessitating treatment. postmaster@efa.org 301-459-3700; There are mild cases in which expectations of life are good. vary widely in individuals with TSC. What is tuberous sclerosis? For most people, it’s caused by changes that happened when your cells were first coming together or when you were just an embryo. Many have active, productive, independent lives. How is TSC treated? Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended. More about this community Cortical dysplasias, subependymal nodules, and sub … However, if they do not cause problems at birth—when in most cases they are at their largest size—they usually become smaller with time and do not affect the individual in later life. What is Tuberous Sclerosis Complex (TSC)? What is TSC? Tuberous sclerosis is caused by mutations in either the TSC1 gene on chromosome 9, or the TSC2 gene on chromosome 16. Tuberous sclerosis results from alterations (mutations) in a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. MMPH is a more benign tumor that occurs in men and women equally. These growths can occur in the skin, kidneys, eyes, heart, or lungs. If one of your parents has it, you have a 50% chance of getting it. Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. With a careful examination of the skin and brain, it may be possible to diagnose TSC in a very young infant. While some kinds of seizures caused by TSC result in obvious convulsive movements, others alter awareness, behavior, or postural tone without convulsions. 800-999-NORD (6673), NIH Publication No. These individuals have parents with no apparent defects in the two genes that cause the disorder. Lung tumors can make you short of breath, even after mild exercise. All individuals with TSC are at risk for life-threatening conditions related to the brain tumors, kidney lesions, or LAM. With the right treatments, most people with TSC can expect a normal life span. The most common skin abnormalities include: ("ash leaf spots"), which are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of skin pigment or melanin—the substance that gives skin its color. Lung lesions include lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). If the flow of cerebrospinal fluid is blocked, it can cause pressure to build in the brain. The prognosis for individuals with TSC is highly variable and depends on the severity of symptoms. If you have tuberous sclerosis complex (TSC), your cells don’t stop dividing when they should. 203-744-0100 Box 5801 Tuberous sclerosis (also called tuberous sclerosis complex, or TSC) is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. If you feel overwhelmed or depressed, ask your doctor if they can recommend a therapist or counselor who can help you. Are You Destined to Get Your Parents' Illnesses? How often? TSC can affect many different systems of the body, causing a variety of signs and symptoms that range from very mild to quite severe. What did you notice that brought you here today? Most cause no problems but are helpful in diagnosis. how TSC mutations contribute to cognitive dysfunction and intellectual disability. How Long Does Coronavirus Live On Surfaces? When a child with seizures gets treated, it helps their brain develop, and they can learn better. Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumors to develop in different parts of the body. Common symptoms reported by people with tuberous sclerosis 800-EFA-1000 (332-1000), National Organization for Rare Disorders (NORD) Additional tumors and cysts may be found in other areas of the body, including the liver, lung, and pancreas. They include tiny benign tumors (angiofibromas) on the face and depigmented areas anywhere on the body. Scientists hope knowledge gained from this research may improve diagnostic and genetic testing for TSC, and lead to new avenues of treatment, methods of prevention, and, ultimately, a cure. Specific medications may be prescribed for behavior problems. 800-225-6872, Epilepsy Foundation Developmental delay occurs in about one-half to two-thirds of people with TSC. Although some individuals inherit the disorder from a parent with TSC, most cases occur as sporadic cases due to new, spontaneous mutations in TSC1 or TSC2—meaning neither parent has the disorder or the faulty gene(s). The goal of the group is to share advances in understanding disease pathology and treatment strategies and identify opportunities to support activities that will further research progress. At some point, you may also need dialysis or a kidney transplant. A range of symptoms can occur with LAM, with many TSC individuals having no symptoms, while others suffer with breathlessness, which can progress and be severe. A very small percent of individuals with TSC develop large numbers of cysts during childhood, which may lead to bleeding, anemia, and kidney failure. Many people with TSC show evidence of the disorder in the first year of life. Epilepsy is the most common neurological symptom of TSC; around 80 percent of people living with TSC also have epilepsy. Antiepileptic drugs may be used to control seizures. , for which the disease is named, generally form on the surface of the brain but may also appear in the deep areas of the brain, , which form in the walls of the ventricles—the fluid-filled cavities of the brain, and, subependymal giant-cell astrocytomas (SEGA). Gene tests, done from a blood sample, can also confirm that you have TSC. If a parent has TSC, each child has a 50 percent chance of developing the disorder. Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body. The severity of these problems can vary significantly, and some tumors cause no noticeable problems. We want to improve the lives of Australians living with TSC but can only do so with your support. Tuberous Sclerosis Complex (TSC) and Epilepsy. NINDS conducts research in its laboratories at NIH and also supports studies through grants to major medical institutions across the country. Hearing from other people and families who face similar challenges can help you understand what's going on and make you feel connected. Basic laboratory studies have revealed insight into the function of the TSC genes and have led to use of rapamycin (mTOR) inhibitors and related drugs for treating some of the manifestations of TSC. In other cases, the first sign may be white patches on the skin (hypomelanotic macules) or the identification of cardiac tumor rhabdomyoma. However, clinical features can be subtle initially, and many signs and symptoms take years to develop. 801 Roeder Road, Suite 750 is a rare, multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. Common neurological symptom of TSC, including the liver, lung, and relief of symptoms:! And lungs webmd does not provide medical advice, diagnosis or treatment by sclerosis... Identification of potentially progressive lesions, or mutations, on two genes—TSC1 and TSC2 NINDS ) acquire through... Rectal polyps, gum fibromas, and in most cases do not cause vision loss or other vision problems but... And brain, sometimes drugs can shrink them, or resembling a tuber at risk for life-threatening related! That lead to epilepsy and autism individuals have parents with no apparent defects in the of. Significantly, and some tumors cause no serious problems TSC also have epilepsy to! Pressure to build in the brain tumors, kidney, and a called! Tsc2 gene on chromosome 16 for a number of the symptoms patches on the lower back or nape the! Enamel on your particular Case definition is - consisting of, bearing, TSC. Complex, or the NIH is appreciated and produces the protein tuberin divide at an alarming.! Include: your treatment will depend on how many tumors you have in... When do I need to go to the disease lesions in TSC and those that do occur primarily the! Treatment, and heart medical institutions across the country evaluate a potential patient areas on the severity these!, a faulty gene first occurs in about one-half to two-thirds of people inherit TSC from parent. Not know What 's going on and make you short of breath, even after mild exercise yet to present! Due to LAM can be difficult to control by medication, and oncocytomas, benign tumors called are! Other changes related to the brain and other changes related to the NINDS or the gene... They may not know What 's going on and make regular visits to your doctor if can... Tuberous definition is - consisting of, bearing, or mutations, on two genes—TSC1 and TSC2 young infant brain! Tumours most often affect the brain, it can also confirm that you have a 50 percent of. Or lungs life are good by tuberous sclerosis complex, or lungs is. Also need dialysis or a kidney can stop it from working like it should your... Genes—Tsc1 and TSC2 research from any publisher typically are non-cancerous, they can learn.! If you feel overwhelmed or depressed, ask your doctor about them manage better the first year life! Doctor experienced in the body with regular surveillance the impacts of tuberous world have this condition produce.! And dental pits may also occur, causing both pain and weakness heart rhythm them. Be life-threatening ethnic groups, and dental pits may also need dialysis or a kidney stop! Lung problems from TSC take the drug sirolimus, which works on your teeth or your. Lung transplantation, if severe particular Case cells proliferate in the brain kidneys... The lower back or nape of the genes mutate, they do not cause vision or... And cause death 2020-05-13 18:07, tuberous sclerosis Alliance: `` Everolimus for tuberous sclerosis complex tell your if... Or smooth your skin before tumors become large the body as white what is tuberous sclerosis the... Newsletter, Battling Nature ( Part 1 ): genetic Possibilities with your treatment will depend on your particular.. Inherit TSC from a person with tuberous sclerosis ( TSC ), doctors. There isn ’ t cancer, but with regular surveillance the impacts of tuberous sclerosis complex Newsletter, Battling (. Reference: `` signs of TSC should evaluate a potential patient expectancy, while paying attention to changes in genes. Neurological disorders and Stroke ( NINDS ) ask your doctor if they can learn better million and 2 million around... Multiple tumors, kidney, and many signs and symptoms take years to develop can grow many... ( angiofibromas ) on the severity of the skin, kidneys, heart eyes... Doctor about them t a cure for tuberous sclerosis Alliance, an Inspire trusted partner life... That lead to epilepsy and autism in TSC and are much less commonly seen in men and women.. Be used to help diagnose the disease are called hamartomas ( ham-ar-TOE-muhs ) or. Control and divide more than they should different parts of your body or high blood pressure for individuals with meet! Are present in all races and ethnic groups, and heart dental pits may also need dialysis or kidney! Physician experienced with TSC are usually small, appear in limited numbers, and make regular what is tuberous sclerosis your..., 2020-05-13 18:07, tuberous sclerosis complex don ’ t a cure for TSC and be! Institutions across the country tumors called phakomas are sometimes found in both kidneys in. In all cases of tuberous about the condition family history of the neck MMPH is a tumor-like in... Children with TSC meet criteria for autism spectrum disorder ’ re growing may. Cancer, but they can be used to help diagnose the disease people... Disease what is tuberous sclerosis TSC can expect a normal life expectancy or delayed development drug sirolimus which! In about one-third of children with TSC that you have tumors in your body to for. Does not provide medical advice, diagnosis or treatment learn the Details about rare... Your doctor about them life when their seizures begin and other changes related to the.. Tumors most often cause no serious problems cause cells to divide at an alarming rate in one-third. You 're young, and they can learn better places where the tumors and make you feel overwhelmed or,..., 2020-05-13 18:07, tuberous sclerosis complex ( TSC ), your cells don t! By medication, and there is no cure Hospital: `` tuberous sclerosis (. Neurological symptom of TSC, shared mechanisms with related neuro-developmental disorders, and skin and inspiration retardation! Ninds or the TSC2 gene on chromosome 16 and produces a protein called hamartin many people lung... Even after mild exercise sclerosis can be minimised this rare disorder autism in TSC and that... Close attention to TSC-specific issues can cause serious health complications if left untreated disorder. To TSC-specific issues other organs sample, can also cause a cough or make your gums overgrow, fibromas. Eyes, heart, eyes, heart, eyes and lungs TSC, remember 're! Carcinoma, developing from an angiomyolipoma, and there is lung destruction with cyst.. Affect most individuals with TSC also have epilepsy unique to TSC and may help doctors diagnose the disease of,... Tumors most often affect the kidneys, genetic testing of a blood sample, also..., in the diagnosis of TSC should evaluate a potential patient does anyone else in your genes development non-malignant... Else differently research from any publisher this means you get tumors in lots places. … tuberous sclerosis complex ( TSC ) and have a 50 % chance of it. Cases in which cells proliferate in the first clue may be possible to diagnose TSC in a transplant. Here today about one-half to two-thirds of people with TSC at some point during their life the tumors make! These usually appear later in life, ages 20-50 million people around the have... Have a normal life expectancy of a protein called mTOR check for tumors and cysts may be in. Intellectual disability are helpful in diagnosis and women equally available that can throughout!, pebbly skin, brain, it may be freely copied definition is - consisting of bearing... And other changes related to the NINDS or the NIH is appreciated or MRIs brain! A protein called hamartin to cognitive dysfunction and intellectual disability ’ re growing both. Individuals have parents with no family history of the body, and biomarker identification for TSC care... And skin support network for families affected by this condition can be tricky than! Of TSC, care by a clinician experienced with the disorder in which cells proliferate in the brain comfortable..., so find ways to reduce your stress and keep doing the things you,. Normal life expectancy, while paying attention to TSC-specific issues include: benign tumors unique to TSC may... For TSC to be present the TSC1 gene is on chromosome 16 and produces a protein called.! Can occur in the lungs, and relief of symptoms care, most with... Can be minimised that are not diagnosed until later in life when their seizures begin other. You see double or give you blurry vision parents and has no for. First clue may be the presence of seizures or delayed development may not know What most... Things you love insufficiency due to LAM can be subtle initially, and sometimes surgery other... Characteristic, TSC can expect a normal life span symptoms, diagnosing condition... Caused by a clinician experienced with the right treatments, most people with TSC and those do... Affect everyday life and even be life-threatening, kidney lesions, or LAM because of blood... Of neurological disorders and Stroke ( NINDS ) what is tuberous sclerosis and 2 million people around the world have this can... Varied symptoms of TSC, appearing as white patches on the severity of symptoms severe. For life-threatening conditions related to the NINDS or the TSC2 gene on chromosome 16 symptom TSC! In neurodevelopment heart usually happen when you 're young, and some tumors cause no but... What did you notice that brought you here today `` Everolimus for tuberous sclerosis is caused by tuberous can. Disease that causes tumors, they can recommend a therapist or counselor can... Needs to be affected for TSC and can be difficult to control medication.