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Doctor insights on: Hepatolenticular Degeneration Wilson's Disease

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Is alzheimer's disease inherited?

Is alzheimer's disease inherited?

Likely yes: If there is a strong history of alzheimer's disease in the family like grandparents, parents, uncles, aunts, brothers or sisters, then you could be at risk of developing it. ...Read more

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Dr. Robert Hutchman
84 doctors shared insights

Wilson's Disease (Definition)

Wilson's disease is a genetic disorder which causes copper to accumulates in body tissues & may cause psychiatric or neurological ...Read more


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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

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Is alzheimer's disease hereditary?

Is alzheimer's disease hereditary?

Yes: Early onset alzheimers has a very large genetic component. Those who get the illness in their 60's, 70's or older have a much smaller genetic component contributing to their illness. ...Read more

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Is alzheimer's disease genetic?

Is alzheimer's disease genetic?

It depends: In rare families, there is an abnormal gene that is transmitted to children and there is 50% probability that the children will eventually develop alzheimer's disease. However, it is usually in families where several members develop alzheimer's disease in early age. Otherwise, there is inheritance of the form of apolipoprotein that increases the risk of developing alzheimer's disease earlier. ...Read more

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Is parkinson’s disease hereditary?

Yes: Although the causes are multifactorial and sometimes poorly understood, there is a hereditary component. Keep in mind, that even though a parent may have it, it does not mean that it will be necessarily passed on. The tendency, however, may be there. ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

A bit: There are some hereditary factors but they are seemingly minor. If you have a first-degree relative with parkinson’s disease you are more likely to get it, but the risk is small (< 5 % according to mayo clinic reports). It can run very strongly in some families in rare situations of abnormalities of alpha-synuclein synthesis or protein disposal problems. ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

Sometimes: Parkinson disease is the most common cause of parkinsonism, a symptomatic triad of tremor, muscular rigidity, and slow movement. Most of parkinson disease is caused by contributions of multiple genes, no one of which is necessary nor sufficient, aided by poorly defined environmental factors. About seven types of parkinson disease are inherited in an autosomal dominant or recessive pattern. ...Read more

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Is Parkinson's disease hereditary?

Is Parkinson's disease hereditary?

It can be, yes: As a general rule, the younger the age of onset (<45yo is early onset), & the more affected relatives (especially close ones), then the more likely it is genetic & the higher the risk to blood relatives. Average age of pd onset is 58. The older you are @ disease onset, the less likely it is genetically inheritable. Look @ this link for help on genetics: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1223/. ...Read more

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Hi. What is wilson disease diseas?

Hi. What is wilson disease diseas?

Copper: Wilson's disease is a disorder of copper metabolism causing too much copper in the blood and tissues. ...Read more

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Is gaucher disease rare?

Is gaucher disease rare?

Uncommon: This genetic problem occurs in about one in 50, 000 to one in 100, 000 people. There are several types. One is more common in certain ethnic groups. ...Read more

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Why is wilson's disease found?

Why is wilson's disease found?

Treatable killer: This may be the most treacherous of all diagnoses. 1 in ~60000 people have this defect in copper metabolism that may have no symptoms or look like something else until it ruins the liver and brain. It's picked up on lab testing and even these are fraught with pitfalls. Diagnosed, it's very easy to treat. I wish you luck and hope your workup is done well. ...Read more

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Is grave's disease hereditary?

Is grave's disease hereditary?

Graves' disease: Because a family history of graves' disease is a known risk factor, there is likely a gene or genes that can make a person more susceptible to the disorder. ...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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What distinguishes Parkinson's disease from alzheimer's disease?

What distinguishes Parkinson's disease from alzheimer's disease?

Many things.: Parkinson's Disease will present with physical symptoms such as shakiness, stiffness of the limbs causing a shuffling gait, lack of facial expression causing a mask-like face and the dementia may occur later while Alzheimer's dementia starts with gradual memory problems which begin to get worse in a few years and maybe accompanied with paranoid delusions. ...Read more

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How is Parkinson's disease inherited?

How is Parkinson's disease inherited?

Mostly not inherited: The vast majority of people with parkinson's seem to get it sporadically, that is without any clear inheritance from family. That being said, we've found around 12 genetic variants that seem to greatly increase the risk of developing pd in some families. Some of them are recessive (rarely crops up), and some are dominant (50% chance of getting it from 1 affected parent). ...Read more

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What is stargardts disease (macular degeneration)?

What is stargardts disease (macular degeneration)?

See below: This genetic disease is sometimes called juvenile macular degeneration. This is no effective treatment for this disease that causes loss of central/reading vision. This disease may likely be treated by gene therapy as only 2 different gene defects are known to cause it. ...Read more

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Is lou gehrig's disease dominant or recessive?

Is lou gehrig's disease dominant or recessive?

Neither: 90-90% of case of ALS are not inherited, it occurs at random at its cause is not known. In 5-10% of cases there is a familial form of the disease. In these 5-10% of cases it is usually dominant (meaning it is only necessary to have one copy of the defective gene) remember however most of the time it is not inherited at all. ...Read more

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Is pku and huntington disease the same disease entity?

Is pku and huntington disease the same disease entity?

Some comments: Pku is a problem with children and this needs early diagnosis to prevent profound complications. Huntington's chorea is an autosomal dominant disorder occurring later in life, and is relatively rare, but genetic counseling might be valuable. Neither disorder has any relationship to the other. ...Read more

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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

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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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Can you provide an overview of how wilson disease affects the liver? 

Could be bad: Wilson's disease leads to copper accumulation in the body - brain/liver/eyes and elsewhere - what it does to the liver? Well - imagine if you stuff your car engine with mud -things get, well, 'mucked up' - well that's the livers story - the liver does lots of stuff in the body - breaks down bad stuff, makes good stuff - and, is in the center of the circulation highway -so, muck up the liver and.. ...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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What is the fate of someone who does not treat wilsons disease?

Liver/neuro failure: Untreated, Wilson's disease can progress to liver failure and neurological disability and possibly death. With treatment, individuals with Wilson's disease have normal life expectancy. However, without treatment, individuals can expect issues with the brain, liver, eyes and psychiatric manifestations. Each individual is different so there are not set patterns of disease ...Read more

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If someone has wilsons disease, then how does he function compared to a normal person?

If someone has wilsons disease, then how does he function compared to a normal person?

Pretty normal: Until the wilson's disease causes liver function compromise, you should function normally. With proper treatment you should not have any functional problems. ...Read more

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What are the tests for wilson disease?

What are the tests for wilson disease?

It depends: Serum ceruloplasmin is often used and it is a poor choice as it misses about 30% of cases. Urine copper is my choice. If there's a family history or the diagnosis seems obvious, or urine copper is high, test the ATP7B gene. ...Read more

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At which age wilson disease excluded ???

No age criteria: this is a disease mainly diagnosed based on symptoms and lab results. There is no cutoff in terms of age ...Read more

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What are some of the other symptoms of wilson disease?

What are some of the other symptoms of wilson disease?

Wilson Disease: The main organs affected by copper accumulation are the liver and brain, so your symptoms are refer able to these organs. You may experience cognitive impairment, bradykinesia, parkinsonian-like motor symptoms, other motor and sensory problems, fatigue, esophageal varices, liver and kidney disease, and, of course, the copper colored rings in your eyes. Cardiac involvement can also intervene. ...Read more

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What is the treatment for wilsons disease?

Remove copper: Excessive copper poisons the body organs, so the treatment is to remove the copper while stabilizing organs that may have been injured. This is called chelation. Several chemicals are used to remove the copper. See: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001789/ also, www.Wilsonsdisease.Org. ...Read more

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Do people with wilson disease have a lot of pain?

Do people with wilson disease have a lot of pain?

No: Movement disorder--deterioration of cognition--hepatitis---joint pain is not very significant--but they get a variety of symptom--ask your doctor. ...Read more

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I have low ceruloplasmin on blood test, so what are the chances I have wilson disease?

I have low ceruloplasmin on blood test, so what are the chances I have wilson disease?

Need more workup: Low ceruloplasmin by itself is not diagnostic of wilson disease. Decreased ceruloplasmin and blood copper concentrations and increased urine copper levels may indicate wilson disease. Definitive diagnosis may require a liver biopsy. ...Read more

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