Tuberous Sclerosis

Also called: TSC, Tuberous sclerosis complex

Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include

  • Skin problems, such as light patches and thickened skin
  • Seizures
  • Behavior problems
  • Intellectual disabilities
  • Kidney problems

Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.

Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications.

NIH: National Institute of Neurological Disorders and Stroke

Symptoms of Tuberous Sclerosis

The following features are indicative of Tuberous Sclerosis:
  • thickened skin
  • growths under or around the nails
  • seizures
  • intellectual disability
  • learning disabilities
  • developmental delays
  • behavior problems
  • communication and social interaction problems
  • heart problems
  • lung problems
It is possible that Tuberous Sclerosis shows no physical symptoms and still is present in a patient.

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Common Causes of Tuberous Sclerosis

The following are the most common causes of Tuberous Sclerosis:
  • genetic mutation

Risk Factors for Tuberous Sclerosis

The following factors may increase the likelihood of Tuberous Sclerosis:
  • mutation in the TSC1 or TSC2 gene

Prevention of Tuberous Sclerosis

No, it is not possible to prevent Tuberous Sclerosis.
  • genetic factor

Occurrence of Tuberous Sclerosis

Number of Cases

The following are the number of Tuberous Sclerosis cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Tuberous Sclerosis most commonly occurs in the following age group:
  • Aged between 20-35 years

Common Gender

Tuberous Sclerosis can occur in any gender.

Lab Tests and Procedures for Diagnosis of Tuberous Sclerosis

The following lab tests and procedures are used to detect Tuberous Sclerosis:
  • Computed tomography (CT) or magnetic resonance imaging (MRI): To see the tubers in the brain
  • Ultrasound: To see the tumors in heart, liver and kidneys
  • Skin test: To examine the skin for the wide variety of skin features

Doctor for Diagnosis of Tuberous Sclerosis

Patients should visit the following specialists if they have symptoms of Tuberous Sclerosis:
  • Neurologist
  • Medical geneticist

Complications of Tuberous Sclerosis if untreated

Yes, Tuberous Sclerosis causes complications if it is not treated. Below is the list of complications and problems that may arise if Tuberous Sclerosis is left untreated:
  • subependymal giant cell astrocytomas
  • lesions in the heart
  • lesions in the kidney
  • lesions in the lungs
  • lesions in the eye

Procedures for Treatment of Tuberous Sclerosis

The following procedures are used to treat Tuberous Sclerosis:
  • Surgery: Removal of tubers in case of hemorrhage from kidney tumors
  • Lung transplantation: Transplantation of lungs in case of respiratory insufficiency

Alternative Medicine for Treatment of Tuberous Sclerosis

The following alternate medicine and therapies are known to help in the treatment or management of Tuberous Sclerosis:
  • Educational therapy: Helps children in making adaptations to developmental delays
  • Occupational therapy: Improve the ability to handle daily tasks
  • Psychological therapy: Help you or your child to accept and adjust while living with this disorder

Patient Support for Treatment of Tuberous Sclerosis

The following actions may help Tuberous Sclerosis patients:
  • Establish a screening schedule: Discover and treat problems early by screening
  • Provide love and support: Helping the child to reach his or her full potential
  • Connect with other families: Helpful in coping with tuberous sclerosis
  • Support group: Join a support group to share your problem with people suffering from same condition

Time for Treatment of Tuberous Sclerosis

While time-period of treatment for each patient may vary, below is the typical time-period for Tuberous Sclerosis to resolve if treated properly under an expert supervision:
  • More than 1 year

Related Topics

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Tuberous Sclerosis.

Related Topics

Tuberous Sclerosis

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