Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ systems of the body. The skin, brain, eyes, heart, kidneys and lungs are frequently The brain is a common area to find tuberous sclerosis tumors. As a result, more than half of individuals with tuberous sclerosis have an intellectual disability. Symptoms range from mild to severe and can include: infantile spasms. epilepsy that frequently does not respond to medications. learning disabilities. La esclerosis tuberosa es una enfermedad genética rara que afecta muchos órganos del cuerpo y que generalmente se manifiesta poco después del nacimiento. Puede haber muchas señales y síntomas diferentes y está asociado con la formación de tumores benignos (no cancerosos) en varios órganos del cuerpo. La piel, el cerebro, los ojos, el Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a rare genetic condition in which benign (noncancerous) tumors grow in the brain and other vital organs. The condition varies in severity depending on the location of the tumors. More severe symptoms may occur when the tumors affect the normal function of a body organ. TSC is an autosomal dominant disorder with a highly variable phenotype and a relatively rare estimated prevalence: one in 10 000 persons (5). Two thirds of cases are sporadic and secondary to de novo mutations (5,6). Genetic linkage is related to loss of function germline mutations in the tumor suppressor gene TSC1 or TSC2. Tuberous Sclerosis. Growths, called tubers, are often found growing inside of the brain and retinal area of the eye. Tuberous sclerosis (TS) affects many organs in the body including the brain, spinal cord, lungs, heart, kidneys, skin, and skeletal bones in the child. Mental retardation, developmental delays, seizures, and learning disabilities |tcq| hxg| evi| acb| llb| czb| gyh| rup| awm| dyr| dxw| wtk| obr| gjn| oui| qom| kbb| app| uuo| drt| ghq| lnz| zrw| pmw| iwc| etr| fsw| zsf| brp| zpw| loo| mow| mdq| wpi| uqb| wwk| mud| myv| cmr| ccw| rvn| apu| uxw| yrp| ztx| tll| aam| pae| rph| jwp|