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Tuberous Sclerosis Complex 1 (TSC1) (Multi-system disease which causes…
Tuberous Sclerosis Complex 1 (TSC1)
Caused by a gene defect/mutation
TSC1 or TSC2 gene; only one needs to be effected for the disease to be present.
Some cases happen inherently the from a parent; most cases occur via gene mutation
Spontaneous gene mutation occurs in people with no inherited gene - but the change/mutation in a gene occurs in the affected individual.
Inherently the disorder is autosomal dominant (only 1 parent needs to have the faulty gene).
Multi-system disease which causes benign tumors on vital organs (including the eyes, kidneys, heart, lungs and/or skin).
Diagnosed via MRI or CT scan of the brain.
Ultrasounds of the heart, liver and kidneys can show tumors in those organs.
Prevalence: affects between 25-40,000 in the US (1-2 million around the world).
1 in 6k newborns affected
TSC1 does NOT discriminate: both genders, all races and ethnic groups are a risk
Symptoms and Signs
Many show subtle signs within their 1st year of life; although most develop more significant signs over the coming years.
Symptoms include: seizures, developmental delays, behavior problems, skin abnormalities, & kidney disease.
Kidney problems occur in many (70-80%) between 15-30yrs old.
Can vary depending on the organs affected. Can range from mild to severe.
Cysts and angiomyolipomas are often symptoms
3 types of brain tumors (generally associated with TSC1): cortical tubors, subependymal nodules, & astrocytomas.
Skin abnormalities such as: ash leaf spots (white/light patches), red spots/bumps on the face, raised/discolored skin on the forehead, thick/leathery/pebble-like patches on the lower back, small fleshy tumors (fingernails/toenails),