Managing seizures in patients with tuberous sclerosis

Early diagnosis of Tuberous Sclerosis Complex (TSC) is crucial for managing its wide-ranging symptoms. Understanding this genetic condition can empower families to seek timely care, improving long-term health outcomes and quality of life for those affected by TSC.

What are the main causes of Tuberous Sclerosis?

• Tuberous sclerosis is a genetic disorder caused by mutations in either the TSC1 or TSC2 gene, which are responsible for regulating cell growth and division.
• According to tuberous sclerosis genetics, while it can be inherited from a parent, about two-thirds of cases result from a new, spontaneous gene mutation.
• These faulty genes lead to the formation of benign tumours, called hamartomas, in many different organs, including the brain, skin, kidneys, heart, and lungs.

Key symptoms of Tuberous Sclerosis to watch for

• The most common tuberous sclerosis symptoms are skin abnormalities, such as light-coloured patches known as ash leaf spots, which are often present from birth.
• Other distinctive skin signs include thickened, textured areas of skin called a shagreen patch and reddish bumps that appear on the face (angiofibromas).
• Neurological issues are very prominent, with seizures being a hallmark symptom; benign tumours can also affect the function of vital organs like the kidneys.

How is Tuberous Sclerosis managed?

• There is no cure, so tuberous sclerosis treatment focuses on managing specific symptoms, like using anti-seizure medications to control epilepsy effectively.
• A tuberous sclerosis diagnosis requires regular monitoring with imaging tests like MRI or CT scans to track tumour growth in the brain and other organs.
• Medications known as mTOR inhibitors have significantly improved care, helping to shrink certain tumours and improve the tuberous sclerosis life expectancy.

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Illustrated illustrations Tuberous Sclerosis

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Living with Tuberous Sclerosis requires a multidisciplinary medical team. If you or a loved one shows symptoms, seeking a comprehensive evaluation is the first step toward a personalized care plan that can significantly improve quality of life and long-term health.

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