About Tuberous sclerosis complex

What is Tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-cancerous tumors to form in various organs, including the brain, kidneys, heart, eyes, lungs, and skin. It is a rare disorder that affects about 1 in 6,000 people. Symptoms vary from person to person and can include seizures, developmental delays, skin abnormalities, and behavioral problems. Treatment typically involves medications, surgery, and lifestyle changes.

What are the symptoms of Tuberous sclerosis complex?

Common symptoms of Tuberous Sclerosis Complex (TSC) include:

- Seizures
- Developmental delays
- Intellectual disability
- Skin abnormalities (such as facial angiofibromas, shagreen patches, and ungual fibromas)
- Kidney abnormalities
- Heart abnormalities
- Behavioral problems
- Autism spectrum disorder
- Lung problems
- Eye problems
- Hearing loss

What are the causes of Tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either of two genes, TSC1 or TSC2. These mutations can be inherited from a parent or can occur spontaneously.

What are the treatments for Tuberous sclerosis complex?

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

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

3. Radiation therapy: Radiation therapy may be used to shrink tumors or to treat complications such as hydrocephalus.

4. Dietary changes: Dietary changes may be necessary to help manage symptoms such as seizures or gastrointestinal issues.

5. Physical and occupational therapy: Physical and occupational therapy can help improve mobility, coordination, and strength.

6. Behavioral therapy: Behavioral therapy can help manage anxiety, depression, and other behavioral issues.

What are the risk factors for Tuberous sclerosis complex?

1. Family history of Tuberous Sclerosis Complex (TSC)
2. Maternal age over 30
3. Maternal history of epilepsy
4. Maternal history of mental illness
5. Maternal history of kidney disease
6. Maternal history of diabetes
7. Maternal history of autoimmune disorders
8. Maternal history of cancer
9. Maternal history of exposure to certain environmental toxins
10. Maternal history of taking certain medications during pregnancy

Is there a cure/medications for Tuberous sclerosis complex?

Yes, there are medications and treatments available for Tuberous Sclerosis Complex (TSC). The most common medications used to treat TSC are anticonvulsants, antipsychotics, and mTOR inhibitors. Other treatments may include surgery, radiation therapy, and physical therapy.