Wilson+disease

__ First Discovery- __
Wilson's disease was discovered and documented by (Samuel Alexander) Kinnier Wilson in 1912. Although other scientists and neurologists came to similar conclusions and statements, Mr. Samuel Alexander Kinnier Wilson was the one who was credited with the finding of the genetic disorder. Mr. Wilson was born in New Jersey of the United States but later returned to his mother's homeland of Scotland to carry out his education. He graduated in 1902 from Edinburg medical school with a bachelors degree of science with first class honors in Physiology in 1913. Mr. Wilson traveled to Paris, France to research neurology and followed his studies with an additional four months in Leipzig, Germany. In 1904, he was appointed as House Physician to the national hospital of the paralyzed and epileptic in London, England. Here Wilson carried out the remainder of his career climbing up the ranks as a neurologist. Wilson's disease was most likely discovered in London, England of 1912 when he located a disorder of hepatic copper disposition caused by mutations in the gene ATP7B, located on chromosome 13. Later, the ideas and studies of multiple neurologists (before and after Wilson's era) where put together in order to support his findings and depict Wilson's disease as we know it today.



= = =__**Symptoms and Characteristics of Wilson's Disease-**__=

__** Symptoms of Wilson's Disease include: **__

 * Fatigue, abdominal pain and lacking of an appetite
 * Jaundice: the yellowing of one's skin and the whitening of their eyes due to a build up or excess of the pigment, bilirubin.
 * Kayser-Fleischer rings: dark rings that appear to encircle the limbus of the eye
 * Fluid build up amongst the legs or abdomen
 * Difficulties or problems with speech, swallowing or physical condition.
 * **Uncontrolled movements and muscle stiffness **

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__** When Wilson's Disease is Contracted & When Symptoms Begin to Occurr- **__

 * Wilson's Disease is contracted at birth but symptoms of the disease do not become present until copper builds up in the brain, liver, or other organ. The symptoms of Wilson's disease become present and diagnosed most frequently between the ages of five through thirty five, but can also occur in younger or older human beings. **

__**Is Wilson's Disease Treatable?**__
Wilson's Disease is a very treatable disease in which medications called chelating agents can be utilized in order to bind copper and then prompt your organs to release it into your bloodstream. Once in your bloodstream, excess copper can be eliminated through the excretory system. Medications include, Penicillamine (Cuprimine, Depen), Trientine (Syprine), Zinc acetate (Galzin). Treatments later focus on preventing copper from building up amongst your bloodstream again. Wilson's disease can also be treated through surgery where a liver transplant can be carried out if necessary.



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__**Fatality?**__
Wilson's Disease is fatal unless detected and treated before serious illness from copper poisoning develops and damages the vital organs of your body systems.



=__**Inheritance Pattern-**__=

Wilson's Disease is an autosomal recessive disease, which occurs equally in both men and women. In order for the inheritance of the disorder, both parents must carry one genetic mutation that each parent passes to the affected child. The genetic mutation responsible for Wilson's Disease lies amongst the thirteenth chromosome. Its gene, ATP7B, contains the necessary genetic information to make a copper transport protein, which plays a significant role in moving excess copper (due to Wilson's disease) from the liver.



=__**Environmental Factors Affects on Symptoms-**__=

Wilson's Disease's symptoms are not immensely impacted by environmental factors in anyway really due to it being a genetically passed on disorder which is accumulate at birth. You could argue that extreme conditions such as very high or cold temperatures could possibly affect symptoms of the disease and I would agree but genetically speaking, symptoms such as jaundice and Kayser-Fleischer rings that are caused by internal terms cannot be affected due to environmental factors. Environmental factors aren't of significant benefit for Wilson's Disease symptoms.



=__**Commonality of Wilson's Disease-**__=

Wilson's Disease is an uncommon disease affecting on average one in every thirty-thousand people. Wilson's disease is most common amongst the countries: Japan, China, and the large island, Sardinia (of Italy), where it can possibly affect one in every ten-thousand people. Wilson's disease is not most common amongst a particular sex due to it being autosomal recessive where each parent must carry one genetic mutation for its offspring.







=__**Preformed Tests to Confirm Diagnosis of Disorder-**__=

**The test which are preformed in order to diagnosis Wilson's Disease are: **

 * Blood and urine tests: blood test are taken in order to monitor your liver function and the levels of copper in your blood and levels of proteins bonding to the copper in your blood.
 * Eye exams: ophthalmologist check for Kayser-Fleischer rings and sunflower cataracts located in one's eye.
 * Removing a sample of liver tissue for testing (biopsy): Doctors remove a small sample which is sent to a laboratory for testing regarding your tissue containing excess amounts of copper.
 * <span style="color: #00068a; font-family: Arial Black,Gadget,sans-serif;">Genetic testing: blood tests can identify genetic mutations and allow doctors to take precautions for siblings such as screening them and preforming early treatments.



= = =__**Responsible Chromosome for Wilson's Disease-**__=

<span style="color: #a82e07; font-family: Arial Black,Gadget,sans-serif;">The responsible chromosome for Wilson's Disease is the thirteenth chromosome. Wilson's Disease is caused by the genetic change of the ATP7B gene, altering its function of being able to remove excessive amounts of copper from the body. Copper begins to build up and be of harmful value to the liver and body's vital organs and without it being removed, Wilson's Disease can be deadly untreated. To synthesize, Wilson's disease is comprised of a genetic mutation of the ATP7B gene and is inherited in an autosomal recessive manner.



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