Tuberous Sclerosis

Category:
Genetic Disorder

Prevalence:
In The US: About 25,000 to 40,000 cases.

Resources:
Mayo Clinic

U.S. National Library of Medicine

WebMD

 

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Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-malignant tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism. However, many people with TSC are living independent, healthy lives and enjoying challenging professions such as doctors, lawyers, educators and researchers. The incidence and severity of the various aspects of TSC can vary widely between individuals—even between identical twins.

At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Nearly 1 million people worldwide are estimated to have TSC, with approximately 50,000 in the United States. Many cases may remain undiagnosed for years or decades due to the relative obscurity of the disease and the mild form symptoms may take in some people.

Tuberous Sclerosis In The News

Everolimus Safe, Effective for Reduction of Seizures in Tuberous Sclerosis Complex

Read More    published: 10/27/2016

Differentiating the mTOR Inhibitors Everolimus and Sirolimus in the Treatment of Tuberous Sclerosis Complex

Read More    published: 07/11/2015

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