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This document provides a comprehensive overview of Tuberous Sclerosis, including its genetic basis, symptoms, diagnostic criteria, and treatment options.
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Gather necessary medical documents and history.
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Obtain genetic testing if recommended by the doctor.
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Include symptoms and medical history related to tuberous sclerosis.
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Who needs Tuberous Sclerosis?

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Individuals with symptoms of tuberous sclerosis.
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Families with a history of tuberous sclerosis.
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Patients experiencing seizures, skin abnormalities, or renal issues.
04
Those undergoing genetic counseling for hereditary conditions.
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For some people who live with TSC, the condition will have no impact on their life expectancy compared to those without the condition, whereas others may be affected by TSC in a way that shortens their expected lifespan.
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. Symptoms may include: white patches of skin on the body. skin rash of red pin-points across the nose and cheeks that progress to small lumps.
Cortical tubers are the neuropathological hallmark of TSC. The most common neurological manifestations of TSC are epilepsy, mental ation, and autistic behavior. Epilepsy occurs in up to 80-90% of patients and is often intractable, with a poor response to anticonvulsant medications.
Tuberous sclerosis is an autosomal dominant genetic condition that is caused by a change (pathogenic variant) in either the TSC1 or TSC2 gene. This means: Girls and boys have an equal risk of having the condition. A change in only one copy of a gene causes TSC.
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.
Seizures and / or white patches on the skin are often the first signs of the condition. Nearly all children with tuberous sclerosis will have some issues with the brain.
Tuberous sclerosis is often first found during infancy or childhood. Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all.
Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancer. Noncancerous tumors, also called benign tumors, are overgrowths of cells and tissue that are not expected.

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Tuberous Sclerosis is a rare genetic disorder that causes non-cancerous tumors to form in various organs, primarily the brain, skin, kidneys, and heart.
Individuals diagnosed with Tuberous Sclerosis or their guardians may need to file relevant medical and insurance documentation related to their condition.
Filling out Tuberous Sclerosis related forms generally involves providing personal, medical, and family history information, along with details about any symptoms or treatments.
The purpose of monitoring Tuberous Sclerosis is to manage symptoms, track the progression of tumors, and provide appropriate treatment and support to affected individuals.
Important information that must be reported includes medical diagnosis, treatments received, any current symptoms, and details about the individual's medical history.
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