Tuberous sclerosis

Overview

Growths called tubers in the brain can cause seizures and learning differences.

Skin signs include light patches and bumps on the face.

Symptoms

Common signs:

• Seizures

Less common

• Skin spots

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Who is more likely to get it

• Children of a parent with it: 1 in 2 chance
• Anyone: Most cases are new gene changes

Possible complications

• Seizures: The most common problem
• Kidney cysts: Kidney growths are common
• Autism: More common with TSC

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• MRI:
• Gene test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Keep seizure action plans
• Regular kidney and eye checks

Prevention

To lower your risk or prevent problems:

• Genetic counseling

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a neurologist (brain and nerve doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Babies: Infantile spasms need fast treatment.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Care helps many people live full lives.

Treatment helps.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Is my child eligible for everolimus?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Tuberous sclerosis