About Tuberous Sclerosis

What is Tuberous Sclerosis?

Tuberous sclerosis is a rare genetic disorder that causes non-cancerous tumors to grow in the brain and other organs. It can cause a wide range of symptoms, including seizures, developmental delays, skin abnormalities, and behavioral problems. It is usually diagnosed in childhood, but can also be diagnosed in adults. Treatment typically involves medications, surgery, and lifestyle changes.

What are the symptoms of Tuberous Sclerosis?

The symptoms of Tuberous Sclerosis can vary from person to person, but some of the most common symptoms include:

- Seizures

- Developmental delays
- Skin abnormalities, such as white patches or facial angiofibromas
- Cognitive impairment
- Behavioral problems
- Kidney problems
- Heart problems
- Lung problems
- Eye problems
- Bone and joint problems
- High blood pressure
- Autism spectrum disorder

What are the causes of Tuberous Sclerosis?

Tuberous sclerosis is caused by a genetic mutation in either the TSC1 or TSC2 gene. These genes are responsible for controlling cell growth and division. The mutation causes cells to grow and divide uncontrollably, leading to the formation of non-cancerous tumors in various organs and tissues.

What are the treatments for Tuberous Sclerosis?

Treatment for Tuberous Sclerosis Complex (TSC) is aimed at managing the symptoms and preventing complications. Treatment options may include:

1. Medications: Medications such as anticonvulsants, antipsychotics, and mTOR inhibitors may be used to help control seizures, reduce anxiety, and slow the growth of tumors.

2. Surgery: Surgery may be used to remove tumors or to treat complications such as hydrocephalus.

3. Dietary changes: Dietary changes may be recommended to help manage symptoms such as seizures.

4. Physical and occupational therapy: Physical and occupational therapy may be used to help improve mobility and coordination.

5. Behavioral therapy: Behavioral therapy may be used to help manage anxiety and other behavioral issues.

6. Alternative therapies: Alternative therapies such as acupuncture, massage, and

What are the risk factors for Tuberous Sclerosis?

1. Family history of Tuberous Sclerosis
2. Maternal exposure to certain drugs during pregnancy
3. Genetic mutations in the TSC1 or TSC2 genes
4. Exposure to certain environmental toxins
5. Low birth weight
6. Premature birth
7. Male gender

Is there a cure/medications for Tuberous Sclerosis?

Yes, there are medications available to treat the symptoms of Tuberous Sclerosis. These medications can help reduce seizures, improve cognitive function, and reduce the growth of tumors. Additionally, there are several surgical options available to treat the physical symptoms of Tuberous Sclerosis.