Tuberous sclerosis… the future

Abstract

Tuberous sclerosis is genetic inherited disease as autosomal dominant .In the past it is thought to be a rare, but recently been found to be more common. Many people have mild symptoms; many remain asymptomatic for a long time before the diagnosis was made. The disease affects many organs: the brain, eyes, skin, kidneys, and in females the lungs as well as the heart may be involved, its progression is unpredictable. Many people think that: when seizures starts, couldn’t even with aggressive treatment, bother yourself waste time and recourses. Now tuberous sclerosis become a model genetic disease having new treatment opportunities like the mTOR inhibitors which has the potentiality to treat and/or improve symptoms and signs of the disease. Many researches had FDA approval, others in the process of approval which is the great hope. In this case I would like to refresh you about the disease, the future options regarding mainly neurological manifestations. The challenge in our situation is the availability feasibility, accessibility and sustainability.