Remember when you look at the neuro.wustl site, that it is already obsolete in some of the hereditary myopathy categories. Such as Welander Distal Myopathy is really no longer a disease and it is not localized to gene 2p13. Many of those disease categories were blown away by recent research. They are back to square one.

This time they are looking at abnormal accumulation of certain proteins, they have roughly 6 to 8 and are adding more as study goes on. The diseases will come out as Myotilinopathies, Zaspopathies, Crystalinopathies, Desferlin, or Deminopathies....EVENTUALLY----isn't being done yet.

Plus there is no cure.

Plus you do not need a diagnosis of genetic disease in your family to keep people from being insured!!! Once genetic diseases are identified in families, a person can be denied insurance or worse.

This is tricky business.

I have been studying this for a while and had to weigh the risk versus benefit.

I have a risk, we have early cardiac deaths in my family, and one of these 'diseases', has that, preceeded by nonsustaining ventricular fibrillation, which I have.

Recently as September, 'silencer genes' one which turn off the disease, or allow the dominant gene to produce disease are being investigated.

This is stuff not even ready for major studies. It is cutting edge molecular biology of great minds, and I do not get the real technical stuff.

It is something to think about.

PN has a reason, some are more evident than others. There are different PNs.

All disease eventually breaks down to a molecular basis, but some diseases are evident, such as diabetes, inflammatory disease, etc.

Genes also interact with environment.

Complex stuff....most people who study this do not work with patients....a few do, or are willing to try to exhaust all possibilities. This is only a last ditch effort, and considered only because I have a history of an ethnic group that is associated with this disease as one quarter of my genetic makeup. Again with dominant genes it doesn't matter if it is a sixteenth. Dominant genes plow thru pedigrees. 72 pedigrees from my area have been identified as having variants of this disease...and that is just what one researcher identified. I have hundreds of individulas and could have a person in those pedigrees as an ancestor....then again, I may not and I could still remain idiopathic.

All this will show is what I do not have.

Potentially what I could have....if it ever gets a name, with a small chance of having something identified, and goody, there is nothing to be done for it!