Tuberous sclerosis

Description:
Tuberous sclerosis is a genetic disease that causes benign tumors to grow in the brain and on other vital organs. Such as your kidneys, heart, eyes, lungs, and skin. It affects your nervous system and can be present at birth. It’s a tumor that blocks the flow of fluid to the brain.


Inheritance:
This disease is inherited by one parent with the disease. That one parent has a 50% chance of passing it to there child. This disease has an autosomal dominant pattern but is mainly a mutation that occurs within the family.




Symptoms:
The symptoms for tuberous sclerosis are seizures, infections, and tumors in your vital organs like your kidneys. Areas that are white grow an ash leaf appearance such as red patches on your face. You can also grow mental retardation and brain development delays. Some signs are abnormal heart rhythm and rubber growths on your tongue or gums.



Daily Life:





Diagnosis:
This disease is diagnosed by taking certain test such as cat scans of your head, mri`s of the head, ultrasounds of the kidney, ultraviolet light examinations of the skin. DNA testing for either of the two genes that can cause the disease. Regular ultrasound checks of the kidney to make sure there is no tumor growth. They also take eye exams and evaluated the skin.


Treatment:

There isn’t any specific treatment for this disease. Medication is given for seizures. The child may need special educational needs in school. Small growths on the face are removed by laser treatments but the growths may grow back after time.





Research:
Researchers are trying to find stronger medications for seizures. They are researching more on the genes that cause this disease so that they can warn parents before giving birth. They give therapy to help control their seizures. Also researching on surgery to remove tumors and stop growths.


Additional Facts:

At least two children born each day will have tuberous sclerosis. Nearly one million people worldwide have this disease. This illness can affect all genders and ages. Since it’s a life long disease it’s not curable and will not go away.




Punnett Square:
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Pedigree Chart:



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Pictures:imagesCALVKAJO.jpgimagesCAV3QZZ1.jpgimagesCA6EHI8Y.jpgResources:
Tuberous Sclerosis Alliance. What is TSC?
http://www.tsalliance.org/pages.aspx?content=2


Health News Flash. What research is being done?
http://www.healthnewsflash.com/conditions/tuberous_sclerosis.php#studies


Tuberous sclerosis complex
http://www.fccc.edu/news/2002/Henske-04-04-2002.html



Pub Med Health