Living with Tuberous sclerosis syndrome
A genetic condition with noncancerous growths in the brain, kidneys, heart, skin, and other organs, and developmental differences.
Understanding Tuberous sclerosis syndrome
Growths can occur in the brain, kidneys, heart, eyes, lungs, skin, and other organs. It often affects the brain and can bring seizures, intellectual disability, ADHD, autism spectrum disorder, and behavior or mood differences. Nearly everyone has skin changes. Signs and symptoms vary from person to person and can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Growths in the brain (cortical tubers)
- Seizures, including infantile spasms
- Autism and behavior differences
- Patches of lighter skin and skin growths (angiofibromas)
- Kidney growths and kidney problems
- Heart growths (cardiac rhabdomyoma)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
TSC Alliance and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: TSC Alliance, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with TSC Alliance and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene here.
Also known as: bourneville disease; bourneville syndrome; bourneville's disease; bourneville's syndrome; epiloia; ts - tuberous sclerosis
Patient organizations
- TSC AllianceTuberous sclerosis syndrome · United States
- Organization for Autism ResearchTuberous sclerosis syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tuberous sclerosis syndrome.
Explore research for Tuberous sclerosis syndrome
Explore actively recruiting Tuberous sclerosis syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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