TSC (Tuberous Sclerosis Complex) is a rare genetic condition that causes tumours to grow in major organs of the body. It affects more than 2,000 people in Australia and thousands more families and friends.
In the U.S., an estimated one in 6,000 children are born each year with this disorder. If a parent has TSC, each child has a 50 percent chance of developing the disorder. Children who inherit TSC may not have the same symptoms as their parent and may have either a more mild or severe form of the disorder.
What is the normal life expectancy of a person with TSC? Most people will have a normal life span. There can be complications in organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated.
What Is the Normal Life Expectancy of an Individual with TSC? Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys, lungs, and brain that can lead to severe difficulties and even death if left untreated. Uncontrolled epilepsy can also be life-threatening.
A seizure is often the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm involves stiffening of the arms and legs and arching the back and head. Problems in thinking, reasoning and learning. Tuberous sclerosis can result in developmental delays.
Symptoms of tuberous sclerosis
Your doctor may suspect tuberous sclerosis if your baby has a condition called cardiac rhabdomyomas (benign heart tumors) at birth. Another sign in infants is having seizures, especially a kind called infantile spasms. Other symptoms can appear later in childhood or even in adulthood.
Tuberous sclerosis is an uncommon genetic disorder, that involves the overgrowth of normal tissue in many different parts of your body. Symptoms vary widely, so you may be severely affected by tuberous sclerosis, or you may not realise you have it.
An estimated 40-50 percent of individuals with TSC have autism spectrum disorder, making TSC a leading genetic cause of syndromic autism.
Girls and boys have an equal risk of having the condition. A change in only one copy of a gene causes TSC. A child can inherit the condition if either parent has it. People with tuberous sclerosis have a 50 percent chance of passing the condition to their children.
A much older study, from the Mayo Clinic in 1991, examined records from their 355 patients with TSC. Of the 40 people who died from causes related to their TSC, the most common causes were kidney disease and brain tumours.
These include a loss of kidney function, a serious lung infection called bronchopneumonia and a severe type of epileptic seizure called status epilepticus. People with tuberous sclerosis may also have an increased risk of developing certain types of cancer, such as kidney cancer, but this is rare.
This causes growths called tubers to grow in the brain and retina of the eye. Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. It can also cause intellectual disability, developmental delays, seizures, and learning disabilities.
Affected populations
Tuberous sclerosis is a rare genetic disorder that affects 1 in 6,000 newborns in the United States. Approximately 40,000 to 80,000 people in the United States have tuberous sclerosis. The prevalence in Europe is estimated to be approximately 1 in 25,000 to 1 in 11,300.
What Is the Link Between Autism Spectrum Disorder and Tuberous Sclerosis Complex? Over the years, it has become recognized that between one-fourth and one-half of all children with tuberous sclerosis complex (TSC) develop ASD.
Tuberous sclerosis is an autosomal dominant disease, which leads to the assumption that it occurs equally in both females and males.
People living with TSC may have overgrowth of the gums (called 'fibromas') or grooves where enamel is weaker ('dental pits'). Fibromas generally do not cause issues, though they can be irritating depending on their location. Dental pits are very common in people living with TSC and are at risk of causing cavities.
Inheritance. Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development.
Tuberous sclerosis is a rare genetic condition that mainly causes development of hamartomas. It can adversely affect maternal and fetal outcome. In tuberous sclerosis, a cardiac rhabdomyoma is the only sign that can be detected prenatally. In maternal tuberous sclerosis, fetal ECHO is advisable after 22 weeks.
Types of behavioral problems associated with TSC include sleep disturbances, attention deficit, hyperactivity, aggressiveness, anxiety, autism, and depression. Like other TSC-related manifestations, the severity of these behavioral disorders ranges widely from mild to debilitating.
TSC may cause other eye abnormalities, such as light patches on the retina, spots on the iris, lightly pigmented eyelashes, angiofibromas on the eyelids and small tumors on the surface of the eye. In most people with TSC, these eye manifestations cause no significant visual impairment.
Most people with tuberous sclerosis complex (TSC) have changes in their skin. There may be light colored spots, called hypomelanotic macules, and bumps on the skin of several different types (angiofibromas, cephalic fibrous plaques, shagreen patches, and ungual fibromas).
In 1908 Vogt set forth the triad of intractable epilepsy, mental retardation, and adenoma sebaceum; this description (until relatively recently) represented the hallmark of tuberous sclerosis complex (TSC) to most clinicians.
TSC can have a wide range of effects depending on how severe it is. Mild cases: Those with mild symptoms or cases may need to take medication regularly or receive treatment, but the condition causes little or no disruption in their life. These individuals typically have the same expected lifespan as people without TSC.