Tuberous Sclerosis

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Tuberous Sclerosis

Tuberous Sclerosis (pronounced: too-ber-ous skle-roh-sis), also known as Tuberous Sclerosis Complex or TSC, is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

Etymology

The term "Tuberous Sclerosis" is derived from the Latin word "tuber" meaning swelling, and the Greek word "sclerosis" meaning hardness. This refers to the characteristic hardened swellings in the brains of those affected.

Symptoms

Symptoms of Tuberous Sclerosis can range from mild to severe, depending on the size and location of the tumors. Common symptoms include skin abnormalities, seizures, cognitive disabilities, behavioral problems, and kidney disease.

Diagnosis

Diagnosis of Tuberous Sclerosis is typically made through a combination of physical examination, medical history, and imaging tests such as MRI or CT scan. Genetic testing can also be used to identify mutations in the TSC1 or TSC2 genes.

Treatment

While there is currently no cure for Tuberous Sclerosis, treatment is aimed at managing symptoms. This may include medications to control seizures, surgery to remove tumors, and behavioral therapy for associated cognitive and behavioral issues.

Related Terms

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