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All about tuberous sclerosis causes of tuberous sclerosis symptoms of tuberous sclerosis diagnosis of tuberous sclerosis treatment for tuberous sclerosis

How is tuberous sclerosis diagnosed?

Examination of the eyes may show retinal abnormalities, pale patches, mulberry tumor or phakoma or astrocytoma (tumor). There may be some indications of heart abnormalities including abnormal heart rhythm (electorcardiogram) or tumor (rhabdomyoma) on ultrasound. An MRI of the head demonstrates tumors or benign "tubers" in the brain. A CAT scan of the head may reveal calcium deposits in the brain. The mouth may show rubbery growths in tongue or gingiva. Ultrasound of kidney may show cysts, fatty benign tumors or serious tumors. Ultraviolet light examination of the skin may show ash leaf spots not visible in ordinary light. Genetic testing for either of 2 genes TSC1 or 2 that can cause this disease may be available.

More information on tuberous sclerosis

What is tuberous sclerosis? - Tuberous sclerosis is a group of 2 genetic disorders characterized by problems with the skin, brain/nervous system, kidneys and a predisposition to tumors.
What causes tuberous sclerosis? - Tuberous sclerosis is inherited as an autosomal dominant trait although a high percentage of cases are due to new mutations.
What are the symptoms of tuberous sclerosis? - Skin lesions, epileptic seizures and developmental delay/behavioural problems are the main symptoms of tuberous sclerosis.
How is tuberous sclerosis diagnosed? - Tuberous sclerosis may be diagnosed with ultrasound to detect heart abnormalities including abnormal heart rhythm (electorcardiogram) or tumor (rhabdomyoma).
What's the treatment for tuberous sclerosis? - There is no specific treatment for tuberous sclerosis. Treatment plans should be determined on an individual basis.
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