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Doctor insights on: Hepatolenticular Degeneration Wilson's Disease

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

Dr. Robert Hutchman
76 doctors shared insights

Wilson's Disease (Definition)

Wilson disease is a genetic condition in which a person's body cannot handle the normal amount of copper obtained through foods. Over time, the copper accumulates in the body and damages the ...Read more


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Why would wilson's disease (hepatolenticular degeneration) be considered a genetic disorder?

Because inherited: Wilson's disease is inherited from the parents, transmitted through the genes during reproduction, thus it is inherited/genetic. ...Read more

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How can I treat wilson disease?

How can I treat wilson disease?

Don't self-treat: Usually an oral medicine to manage copper is all that's required. Be very wary of "alternative and complementary" remedies in this very serious illness, and discuss anything you may be using with your gastroenterologist. I'm going to assume you have real Wilson's and not the "pop" Wilson syndrome, which is not a real illness. Best wishes. ...Read more

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How did wilson disease get its name?

How did wilson disease get its name?

Sam Wilson MD: 1878–1937, first described it and named it hepatolenticular degeneration. Perhaps the most treacherous diagnosis in general medicine, and unfortunately is still missed, which is bad because it's quite easy to manage and horrible if missed. There is also a bogus "wilson's disease" -- lay people are invited to self-diagnose as having subtle thyroid disease; no scientific basis. ...Read more

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What is wilson disease? What is the problem in the body?

What is wilson disease?  What is the problem in the body?

Mutated ATP7B: The cells can't transport copper out of their cytoplasm as they should. This cases the complications of liver cell death and cirrhosis, brain damage, and so forth. ...Read more

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Does Wilsons Disease show on an EEG?

Does Wilsons Disease show on an EEG?

Wilsons disease: can cause hepatic encephalopathy which in turn can produce slow anterior triphasic waves on an EEG in the absence of liver failure it would not likely produce changes on an EEG. There are labs tests and eye findings that may be helpful in arriving at a diagnosis. ...Read more

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Can wilsons disease mimic parkinsons?

Yes: Parkinson-like symptoms can be an initial manifestation of Wilson's disease. Wilson's disease usually occurs in younger people, however. If there is any confusion in diagnosis, Wilson's disease can usually be diagnosed through a combination of blood tests, urine tests, and/or an eye exam. Hope this helps. ...Read more

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What kind of doctor would I want to be in the care of for Wilsons Disease?

Multidisciplinary: A multidisciplinary medical team would serve a patient like this the best. You may need a GI specialist, neurologist, psychiatrist and PCP to work together to help patient with chronic issues. ...Read more

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Describe the treatments enzyme substitution in wilson disease?

Describe the treatments enzyme substitution in wilson disease?

Wilson disease: Excess opper accumulation with serious end organ damage. Treatment after diagnosis is chelation therapy to diseaseexcess copper. Then avoidance of reaccumulation. See mayo clini wilsons disease well written and presented for non medical personnel. ...Read more

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