Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics

Tuberous sclerosis complex (TSC) is a rare genetic disFree Download that causes non-cancerous tumors to grow in different parts of the body, including the brain, kidneys, heart, and lungs. TSC can also cause intellectual disability, autism, and seizures. There is no cure for TSC, but treatment can help to manage the symptoms and improve quality of life.

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

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Genes

TSC is caused by mutations in either the TSC1 or TSC2 gene. These genes encode proteins that are involved in the regulation of cell growth and differentiation. Mutations in these genes can lead to the development of TSC tumors.

Clinical Features

The clinical features of TSC can vary depending on the individual. Some of the most common features include:

* Tumors in the brain, kidneys, heart, and lungs * Intellectual disability * Autism * Seizures * Skin problems * Eye problems

Therapeutics

There is no cure for TSC, but treatment can help to manage the symptoms and improve quality of life. Some of the most common treatments for TSC include:

* Surgery to remove tumors * Medications to control seizures * Therapy to address intellectual disability and autism * Special education services

TSC is a complex and challenging disFree Download, but there is hope for individuals with TSC. With early diagnosis and treatment, individuals with TSC can live full and productive lives.

Call to Action

If you or someone you know has TSC, please contact the Tuberous Sclerosis Alliance for more information and support.

The Tuberous Sclerosis Alliance is a national nonprofit organization dedicated to improving the lives of those affected by TSC. The Alliance provides a variety of services, including:

• Information and support for individuals with TSC and their families
• Advocacy for policies that improve the lives of individuals with TSC
• Funding for research into TSC

To learn more about the Tuberous Sclerosis Alliance, please visit their website at https://www.tsalliance.org.

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

5 out of 5

Language	:	English
File size	:	5746 KB
Text-to-Speech	:	Enabled
Screen Reader	:	Supported
Enhanced typesetting	:	Enabled
Print length	:	432 pages
Lending	:	Enabled

FREE