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Tuberous Sclerosis is an uncommon and complex genetic disorder. It varies in the severity with which it affects people - some people are severly affected and diagnosed early, others are only found to have the condition when their child is diagnosed.
The common feature of Tuberous Sclerosis is the overgrowth of “normal” tissue in the brain and in other organs, including the kidneys, heart, liver and lungs. These growths begin to form in the brain prior to birth and can interfere with brain functioning. They can cause seizures, delayed development, mental retardation, and autistic or hyperactive behaviour. With age, these growths become hard and calcified, hence the term 'sclerosis'. However, life expectancy remains normal.
Around one out of two people born with Tuberous Sclerosis will lead normal lives with no apparent intellectual dysfunction or epilepsy. Estimates vary, but it is thought that approximately one in 7,000 to 10,000 people have Tuberous Sclerosis. There is no cure.
The symptoms of Tuberous Sclerosis vary from one individual to the next, depending on the severity of the condition and which areas of the body are affected.
Tuberous sclerosis is a genetic disorder and is inherited in a dominant fashion. Everyone has two copies of every gene ? one from their mother and one from their father. In a “dominant” disorder, only one copy of the gene needs to be faulty for the person to have the disorder. In about 6 out of 10 cases, the gene spontaneously mutates within the developing baby, for reasons unknown. This gene may also be inherited from a parent, and a person with the condition has a 50 per cent chance of passing on the condition to each of their children.
If a child is diagnosed with Tuberous Sclerosis, other family members should be tested. This is to find out whether the child inherited the condition from one of their parents, or if the disorder has occurred for the first time in them (a spontaneous gene mutation). In about 60% of cases, TS has come as a 'bolt from the blue', the result of a genetic mutation, and no-one else in the family is affected.
Tuberous sclerosis is diagnosed using a number of tests, including:
Eye examinations, which may reveal retinal abnormalities.
A computerised tomography (CT) scan or magnetic resonance imaging (MRI) to look for brain growths. Renal ultrasound to look for cysts or benigh tumours in the kidneys.
Other possibly affected organs, such as the heart and lungs, may be checked for the presence of tuber-like growths to confirm diagnosis.
There is no prenatal test available to check the unborn baby, although echocardiography of the baby's heart may show the characteristic lesions.
There is no cure for Tuberous sclerosis.
Treatement is designed to deal with the symptoms that the patient experiences as they arise.
The effects of TS are very varied. Over 50% of people with TS are intellectually normal and lead perfectly normal lives, whilst the remainder have learning difficulties to a greater or lesser extent. There are rarely problems with mobility in TS. Contrary to what has been believed for many years, the prognosis for patients with the condition is very good. The life expectancy for the great majority of people with TS is normal, even for those with severe learning difficulties and epilepsy.
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