I am posting the following link to a news article on yahoo. I have been involved in some work on pursuing a genetic etiology for my situation, I just want people to know that the test mentioned in this article is not it. There are far more disease specific tests. Many genetic diseases are diagnosed by genetic testing. When I first saw they were offering these genome wide tests I was excited, but after I saw they only identified some common diseases, my enthusiasm for them went down the drain. This article is quite correct, save your money...these tests are not the answer. Medical genealogy accomplishes a lot. I have done one and got some very interesting information, however it is extremely time consuming and you do need to really educate yourself. It isn't easy.

There are many hereditary neuropathies and myopathies that include peripheral neuropathy as a component. These tests will not help with identifying those. Even your ethnicity may be very vague on some of these tests, so be careful with your dollars. Website below.

http://news.yahoo.com/s/nm/20071130/...nes_testing_dc

Hi Cy

So, you might have bad genes, eh? Too bad your folks stayed on the farm for 400 years....not to mention it was one quarter of your ancestry....too bad the other 50% has some weirdo disease too...but lucky you, one test rules them all out!! It is ok that your great great granfather is also your great great uncle and your great great aunt is also your great great grandmother, and five lines of blood descend from one man....it happens. Look at the bright side.....You might find out you are your own twin!!

Uh, only problem, when it all does come back negative, you are back to 'idiopathic' which, even though you have biopsies indicating your axons are falling apart in a length dependent pattern and matters are getting worse....there is no way to treat it and no real cause...hmmm.

Oh my God, then to make matters worse, you are talking to YOURSELF!!!

It has to be all in your head.

OK, so this is the place to talk genes, phenotypes, haplotypes, etiology, all kinds of -opathies....and any questions as to what regions and populations may carry what genes...Population genetics, genetic epidemiology....this will get interesting.

Keep your sense of humor if you come in here---be ready to laugh at yourself---and potentially dishonor the family Be ready to get clinical!

Now we are going at it,and your it,I mean if i get the family history
out,and the genectic testing I had done in St. Louis.my son's was
was done at Mayo,and Daughters at Hopkins..And brothers in Mi.
Some had insurance pay most was research..I can go back to Great
Great Grandparents,there studies were written down by complaints,
and what they were complaining about..I think if we could keep it
in one area it would be interesting..

But I'm not first,my 91 yr old Aunt is going through many tests,and
if I don't fall on her she will be staying with us..Now on my husband's
family they went way back,but it's scary how many of his and my
family had he same medical problems...My family my Grandparents Irish,
my husband's Parents escaped from Russia...Well hush Sue, Really
I would love this,honest. Hugs to all Sue

LOL, I don't know how much of the same symptoms my family had on that one side.....but way too many of them had the same name!!

That was so funny about the names,I hope people here take a interest
in this.. Take care all Sue

I'll bite! Firstly, let me tell you my story, abbreviated version -- I actually started out with hyperreflexia and slurred speech in my late 20's. And those symptoms, coupled with my family history and progressive neurologic problems, prompted my neurologist to send me for an MRI of the brain to capture the atrophy and he also ordered the "Complete Ataxia Evaluation" profile of tests from Athena Labs in early 2006. The profile only tested for a handful of possible types of SCAs (Spino-Cerebellar Ataxia), and to no surprise, my results came back negative for SCA1, 2,3,6, 7, 8, 10, 14, 17, DRPLA, FRDA1, and AOA1. That is why we were given the "SCA, type unknown " diagnosis -- ours is clearly autosomal dominant, that much we know, but not much more...And so here is my game plan -- I will continue with the gene testing as more tests become commercially available, under the discretion of my Ataxia specialist. Yes, I know it's a very expensive outlet for research that may or may not ever capture and reveal our faulty gene, but I'm determined to continue to pursue any type of medical research that I can, mostly for future generations. According to my specialist, ours is a rare type, possibly the next SCA yet to join the ranks of obtaining its very own number...We'll see.

Thanks for sharing your story Color. What you have been thru is truly scary and I admire your willingness to continue with the testing. What you are doing will benefit a lot of people. We need more people like you on this planet....and it would be a

You can see by the slow start on this thread, how difficult a topic this is for people.

I think people are confused by just the word genetics, let alone all the autosomal dominant, sex linked, autosomal recessive stuff. I still have trouble drawing a Punnit Square..I think I spelled that wrong.

I think people also are afraid of hereditary and genetic neurological diagoses, because they fear having a disease they can't treat (even tho many of the neuropathies are untreatable because we really don't know the cause.)

Some people see genetic diseases as somehow disgracing the family. (In my family we do that well enough without any diseases.)

I think people are afraid of a lot of different things....discrimination, passing things on to their kids, telling family members if something is discovered etc. You have gone thru a lot of this testing and these issues, bravely.

This is where I hope people can come and get personal stories, information, and courage.....plus a few laughs....(I am in this thread...it is part of my genetic make-up)

Thanks for sharing your experience.

Dear Cyclelops,
Thanks so much for the understanding and support -- it's taken me a long, long time to even figure out that my mother's side of the family had an actual faulty gene to explain all of their problems in the first place. Yes, the concept of genetic testing is quite subjective and personal -- oddly enough however, I felt just the opposite of what you stated re: genetic diseases disgracing the family. You see, as a kid and young adult, I was always ashamed of my "crippled" relatives, basically because they were what they were, period, and that there was no explanation or personal drive to research whatsoever. The thought of it being possibly genetic never even dawned on them -- be it lack of medical knowledge in the past, concern for future generations, personal interest, money, whatever. But thanks to major medical breakthroughs in the past decade re: Ataxia (I'm referring to the disease, not just the symptom here -- FYI, and that is why the 'A' is capitalized), the sky's the limit.

And so I truly believe that things are so much more comprehensible and acceptable, from both a personal and public point of view, when you at least have an inkling as to what's going on down under...

Thanks for listening!

I have enjoyed the posts in this thread. It's very late here and I definitely can't write anything at all humourous as I'm so tired, but briefly......

.....having one autosomal recessive condition (two mutations) and carrier status (one proven mutation) for another condition I have experienced first hand that whole family mentality of innuendo. One of these conditions is now out in the open in the family and the other one is still definitely hush, hush!

It never ceases to amaze me the lack of recognition of the fact that everyone in the human race carries about five to six mutations and even the 'perfect specimens' do as well....so why does it threaten people so much? Maybe it is just too confronting.

Which brings me to Mitochondrial mutations and genetic testing. Has anyone had mutation testing (DNA) done for Mitochondrial conditions as a cause for their neuropathy?

Hi Megan,
-just a quick response (and further question) re: mitochondrial testing. I had a simple blood test for this -- to check serum lactate level. The results came back as normal, so my neuro didn't pursue his hunch any further. Is this the first step?

Thanks.