Overview
Tuberous sclerosis (TSC) is a rare genetic disorder that causes noncancerous tumors to develop in various parts of the body. These tumors are benign and not expected to spread or grow aggressively. TSC is often first diagnosed during infancy or childhood, but it can also be diagnosed in adulthood or remain undiagnosed.
Types of Tuberous sclerosis (TSC)
There are two main types of TSC:
- TSC1: Caused by a mutation in the TSC1 gene.
- TSC2: Caused by a mutation in the TSC2 gene.
Causes of Tuberous sclerosis (TSC)
The exact cause of TSC is unknown, but it is believed to be caused by a mutation in one of the two genes mentioned above.
Risk Factors of Tuberous sclerosis (TSC)
There is no known risk factor for developing TSC, but it can be inherited from one's parents.
Symptoms of Tuberous sclerosis (TSC)
Symptoms of TSC vary widely depending on where the growths develop and how big they get. Common symptoms include:Preventions of Tuberous sclerosis (TSC)
There is no known way to prevent TSC, as it is caused by a genetic mutation.
Complications: Untreated or poorly managed TSC can lead to serious complications, including:
- Seizure disorders: Chronic seizures that can be difficult to manage.
- Cognitive impairment: Intellectual disability or cognitive impairment.
- Organ dysfunction: Kidney failure, respiratory problems, or heart problems.
- Mental health issues: Anxiety, depression, or other mental health issues.
Diagnosis of Tuberous sclerosis (TSC)
Diagnosing TSC involves a combination of:
- Medical history: Taking a detailed medical history to assess symptoms and risk factors.
- Physical examination: Performing a physical examination to assess skin abnormalities and other signs of TSC.
- Imaging tests: Conducting imaging tests, such as MRI or CT scans, to detect brain tumors or other signs of TSC.
- Genetic testing: Conducting genetic testing to identify the specific genetic mutation causing TSC.
Treatment for Tuberous sclerosis (TSC)
Treatment for TSC involves managing symptoms and preventing complications. Common treatments include:
- Medications: Medications to manage seizures, skin abnormalities, or other symptoms.
- Surgery: Surgery to remove brain tumors or other growths that are causing symptoms.
- Lifestyle modifications: Lifestyle modifications, such as avoiding triggers for seizures or practicing good hygiene to prevent skin infections.
When to seek medical attention ?
If you experience any symptoms suspicious of TSC or have a family history of the condition, consult your doctor immediately.
