May 15 is #TSGlobalDay, the day on which the international Tuberous Sclerosis Community shares information and their stories about TSC to raise awareness of this condition, which affects an estimated 1 million people worldwide.
Here are 15 facts about TSC which give the basics about the condition.
- Tuberous sclerosis complex (TSC) is a genetic disorder with no cure that causes non-cancerous tumors to form in vital organs.
- Tuberous sclerosis complex (TSC) is estimated to affect 1 in 6,000 live births. Globally, one million individuals have TSC, making it as common as cystic fibrosis or amyotrophic lateral sclerosis (ALS).
- Approximately ⅔of individuals diagnosed with tuberous sclerosis complex (TSC) have no family history. The remaining ⅓of individuals diagnosed with TSC have a parent who also has TSC.
- If one parent is diagnosed with tuberous sclerosis complex (TSC), the probability of his or her children inheriting the disease is 50%. If parents are unaffected by TSC and have one child with TSC, the probability of having another child with TSC is around 1-2%.
- Tuberous sclerosis complex (TSC) is the leading genetic cause of both epilepsy and autism spectrum disorders. Seizures occur in approximately 85% of individuals with TSC and intellectual disabilities are found in 45-60%.
- Approximately 98% of individuals experience one or more skin manifestations (such as angiofibromas) of tuberous sclerosis complex (TSC).
- Up to 60% of individuals experience kidney involvement with tuberous sclerosis complex (TSC).
- Tuberous sclerosis complex (TSC) affects men and women in equal numbers and occurs in all races and ethnic groups.
- Tuberous sclerosis complex (TSC) affects everyone differently; some may have mild symptoms while others are severely impacted. TSC symptoms often vary over a person’s lifetime—someone who has few childhood symptoms may still have severe health problems later in life.
- Scientists have identified the two genes that cause tuberous sclerosis complex (TSC), named TSC1 and TSC2.
- Tuberous sclerosis complex (TSC) may be diagnosed prenatally or very soon after birth if rhabdomyomas (a type of heart tumor) are detected during routine ultrasounds during pregnancy.
- Tuberous sclerosis complex (TSC) affects everyone uniquely—even identical twins.
- Facial growths generally appear by age five (sometimes they are first mistaken for acne) and affect approximately 90% of individuals with tuberous sclerosis complex (TSC).
- Rapamycin and its derivatives (such as everolimus), called “mTOR inhibitors,” are sometimes used to treat tumors and/or epilepsy caused by tuberous sclerosis complex (TSC).
- TSC is a “linchpin” disease–one that can potentially unlock new treatments to a wide array of disorders. Because of its diverse symptoms, research into tuberous sclerosis complex (TSC) is leading to a better understanding of other common diseases, such as cancer, autism spectrum disorders, and epilepsy.
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