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Tuberous sclerosis; Other names: Tuberous sclerosis complex (TSC), Bourneville disease, Bourneville-Pringle disease [1] Main symptoms and signs of tuberous sclerosis: Specialty: Neurology, medical genetics: Prognosis: normal life expectancy: Frequency: 7 to 12 per 100,000 [2]
Life expectancy for many is middle age. [5] Frequency: 1 in 8,500 females [4] ... tuberous sclerosis, or Down syndrome that also exhibit autistic features. [56] ...
However, angiofibromas are more common in tuberous sclerosis. [6] Along with the tumors, other skin conditions are seen in people with Birt–Hogg–Dubé syndrome. About 40% of people or families with the disease have papules in their mouths, which can be located on the cheeks (buccal mucosa), tongue, gums, or lips.
Adult women with tuberous sclerosis are more likely to develop LAM than women without tuberous sclerosis. Cohorts of patients with tuberous sclerosis have been screened for LAM using CT scanning. In a retrospective study of adults with tuberous sclerosis, CT demonstrated lung cysts in 42% of 95 women and 13% of 91 men.
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys , heart , eyes , lungs , and skin .
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...
Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. [5] Function. TSC1 functions as a co-chaperone which ...
Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor (astrocytoma) that arises within the ventricles of the brain. [1] It is most commonly associated with tuberous sclerosis complex (TSC).