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Tuberous Sclerosis (Symptoms (Skin Abnormalities, Kidney Disease,…
Tuberous Sclerosis
Symptoms
Skin Abnormalities
Kidney Disease
Behavioral Problems
Developmental Delays
Seizures
Diagnosis
Presence of seizure and delayed development.
Many are not diagnosed until later in life.
Through examination and MRI or CT of brain.
Cause
A mutation on the TSC1 and TSC2 gene.
Only one of these genes needs to be altered for the disorder to be present.
Benign tumors may grow on brain and other vital organs.
Inherited?
Few inherit the autosomal dominant disorder.
Most cases are new or spontaneous mutations.
Those Affected
25,000 to 40,000 individuals in the United States
1 to 2 million individuals worldwide
70-80% have kidney problems between age 15 - 30.