FAQ - Amyloid Neuropathies, Familial
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What support groups and genetic counselors are there for the genetic disorder: familial hypercholesterolemia?


We are a group of high school students who need to contact a genetic counselor or support group about familial hypercholesterolemia for a biology project. Are there any genetic counselors or groups that you know of?
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Couldn't find any support groups, but I found the NSGC (National Society of Genetic Counselors) website www.nsgc.org. The menu on the left allows you to search for genetic counselors by specialty or by geography. Hope that helps. Sorry I couldn't find a support group!  (+ info)

Do scientists understand how amyloid plaques are formed in the brain?


My Mother has late onset Alzheimers. I'm interested mostly in lifestyle changes or foods that contribute to amyloid plaque formation.
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Well, high fat/low carb studies have been done in mice and seem to reduce the buildup or formation of amyloid plaques. I have also read studies that NSAIDS have had an effect on breaking up amyloid plaques, but only in early onset. I was interested in your question because my dad just passed away from Primary Amyloidosis. (Amyloid proteins starting in bone marrow and then attacking organs and/or central nervous system). I was trying to read more on it because it seems that any disease at all related to amyloids is incurable and only barely manageable. I was trying to see if they behaved the same in each disease. Guess I need to keep reading more. I am sorry to hear about your mother. I wish you the best and the strength in dealing with this difficult disease.  (+ info)

What actions do you think might decrease the cases of new (non-familial) autism?


Autism has various causes one is familial traits.
non-familial autism comes from new mutations from older father's sperm or is carried by mother's who had older fathers. In these cases these are de novo mutations new genetic disorders.
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I'm sorry Christine but all autism is not genetic and from birth. If so, explain how my daughter developed ahead of her peers up until 14 months? Then she has a flu shot and two weeks later seizures, after the seizures the regression started.  (+ info)

What are the symptoms of familial paroxysmal kinesigenic dyskinesia?


What are the symptoms and what are some potential cures, if any?
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It is a genetic seizure disorder, characterised by sudden movements when changing position; or being startled by loud noises and suddenly shaking one hands. Such as rising from a chair your leg will shake/spasm.

It is treated with seizure medications such as carbamazepine or phenytoin.  (+ info)

What are the chances of familial Down Syndrome for me?


My aunt has a balanced genetic translocation that resulted in children with Down Syndrome. None of her siblings had children with Down Syndrome, nor are there any other cases of it in the family. What are the chances that I would have a translocation as well?
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Translocation Down syndrome can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 21. Although they do not have signs of Down syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.
before you decide to have children, it might be wise to visit a genetic counselor and find out your risks.  (+ info)

Does anyone know of any natural remedies for Essential (familial) tremor?


I have been diagnosed with essential (familial) tremor and rather than opting for medications I was interested to see if anyone had any natural remedies and to what degree of success do/did these have. Also your opinion on the medications used in the treatment of the tremor, side effects, etc. Thanks
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A web search in Yahoo for "essential tremor" + "natural remedies" will turn up at least 163 results.  (+ info)

Where can an adult survivor of sexual abuse find information on familial patterns and how to break them?


I just found out a string of disturbing facts re: sexual abuse in my family and am looking for information on how to heal/stop the pattern from repeating. I am also looking for information to discover how it may have affected me and looking for information to heal. Any leads? No religious or 12 step groups, please! I respect that they work for you. Please respect that those methods do not work in any way, shape or form for me.
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just hold your head up and remember that it's not your shame. SO DON'T BARE IT. NOT YOUR BURDEN TO CARRY.  (+ info)

If familial mediterranean fever is left untreated can it cause death?


He also has a secondry infection of vasculitis.
How long is life expectency if you don't have treatment for both?
What method of treatment is there? Can it make you feel nauseous?
I'm wondering cause my friend's kid was just diagnosed with it and he's only a couple years old.
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I know someone who has it. It is fatal if you don't have treatment. As for vasculitis as far as I know that can be fatel to. It's blood vessels so it can evently lead to death.
I don't know how long life expectency is. It's not like 10 days or something like that. It's not short but not 10 years. It's somewhere in between.
Talk the family into getting treatment. It's a tiney pill the kid has to make, smaller than M and M's. It's not worth dying over. It would effect the kid in any other major way. He can still have a normal life. With treatment life expetency as the same for him as it is for the healthiest person alive.  (+ info)

What is the difference between an amyloid and a prion?


Are they both accumulations of misfolded proteins? I'm having a little trouble understanding these...
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A prion is a protein that is misfolded but has the capacity to change other proteins near it to be misfolded  (+ info)

How or why does familial abuse survive or self-perpetuate?


?
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I'm against that...if I understand you right  (+ info)

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