Hi,

20% sounds about right that you would have to pay at Athena Diagnostics. Hopefully, if/when you get to the DNA blood testing, they can find out if you do indeed have CMT, one which they can test for.

This has been a long row to hoe for you. So many things going on. And there sure seems to be trouble somewhere in the branch of the family dying early with cardiac problems.

I wish you well and hope that you can get some answers to your questions. It would also shed some light for your children. Again, thanks so very much for your reply.

Kitt

Just jumped back on to say Athena Diagnostics is who my Neurologist used (along with her own testing) when testing began for PN.

--I've found that many physicians, even some neurologists, think that hereditary neuropathy and Charcot-Marie-Tooth are synonymous, but in reality there are numerous variation of hereditary neuropathies and myopathies, of which CMT in its various forms is only one permuatation (although it does seem to be the most common one, and more understood than many of the others).

There are variants of CMT, there are numerous kinds of hereditary sensory and autonomic neuropathies (HSAN), and a batch of hereditary motor/sensory neuropathies that are not under the CMT rubric, as well as numerous hereditary neuromuscular syndromes without widespread sensory involvement. If one looks at the ever-expanding listings at the Washington University Neuromuscular website:

http://neuromuscular.wustl.edu/time/hmsn.html
http://neuromuscular.wustl.edu/time/hsn.htm
http://neuromuscular.wustl.edu/time/hsn.htm

one could be excused for thinking that each individual case is a new entity unto him/herself.

The likelihood is that as the human genome continues to be studied, even more of these conditions will be identified, and many will be associated with effects and consequences beyond the neuromuscular . . .

Glenn, I have to admit, i wonder how some of these folks get diagnosed...it says, incidence of 'One' or 'two siblings from Bulgaria of consagnuinous parentage', or 'one family from Azerbajan'. LOL....is it a disease if one person and one person only manifests the mutation?? I suppose if some one is interested in the mutation, it is, but is it likely to be duplicated?? Hmm.

I too, am perplexed at the ever growing list of misplaced or duplicated AGTC's, and I think that is what my doc to a great extent is saying...this will cost tens of thousands of dollars right now....in a few years, the disease process, may direct him more, as to which tests are ball park, and which ones we can rule out based on symptoms.

Athena Labs appears to be at the forefront of CMT testing, and would be the likley choice.

CMT, and HNs are seeming to overlap, and even the myopathies are now getting tossed in there as a few have C fiber degeneration....the more we learn the more there is to know.

To think that PN was once simple...but then again thousands if not millions went undiagnosed due to a normal EMG! Oh wait, that still happens!