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What Is Tuberous Sclerosis?

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  • Written By: K T Solis
  • Edited By: Heather Bailey
  • Last Modified Date: 30 August 2016
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Tuberous sclerosis is a genetic disease characterized by the presence of benign tumors in the brain and other organs of the body. This rare disease is often inherited from a person's parents and has no cure. It can also be caused by a genetic mutation of the genes TSC1 and TSC2. As the genes mutate, they cause cells to divide at an alarming rate. In turn, tumors develop throughout the body.

When a person suffers from this particular disease, he or she may experience seizures. Behavior problems, learning disabilities, and mental disabilities are other symptoms of this disease. A person may experience problems with the kidneys as well.

Although tuberous sclerosis cannot be cured, doctors can treat the disease through surgery, medication, occupational therapy, and educational intervention. Surgery is performed to remove the tumors from the brain or other vital organs of the body. Medication can be employed to treat the patient's seizures that result from the disease. Occupational therapy can assist patients who suffer from mental disabilities caused by this disease. Educational therapy can be used to help children overcome developmental delays as a result of this disease.

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If a patient with tuberous sclerosis receives proper medical treatment, it is possible for him or her to expect to live a normal life span. In some cases, tumors within the brain or kidneys can cause complications. This can lead to further medical complications, some of which can prove fatal. Patients who have a mild form can enjoy relatively normal lives. Those who have a more severe form of the disease that is linked to mental retardation and seizures will experience more difficulties.

Doctors may suspect that a baby has tuberous sclerosis if it is prone to seizures or has benign tumors in the heart. Some symptoms of the disease may not appear until childhood. These symptoms may include growths beneath the fingernails, skin rashes similar in appearance to acne, shortness of breath, coughing, or white spots that appear on the skin.

When a doctor believes that a patient suffers from tuberous sclerosis, he or she may order a variety of tests for a patient. For example, the patient may be required to undergo a CT scan or MRI for the head. The doctor may order an ultrasound of the patient's kidneys or examine the skin by employing an ultraviolet light. He or she may conduct DNA testing to determine if the genes that cause the disease are present. Patients with this rare genetic disease require ongoing visits to the doctor to monitor their condition.

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