I have my results back for the DOK7 gene test. It says:

"In this patient's DOK7 gene no sequence variants were found that are likely to cause familial limb girdle myasthenic syndrome.

Four sequence variants were found that are unlikely to be causative although one is yet undocumented."

Is it normal to have gene variants for other reasons ? I feel like a mutant now Could this un named variant be a variant of CMS not yet discovered ?

I still find the symptoms are there if I don't take my albuterol. At this stage I guess I keep taking it ? Neuro will not rx Mestinon so have nothing else really.

Is it normal to have an enlarged thymus for other reasons ? Or can the AChR test show a positive after a few years of negatives ? Should my GP just keep doing annual checks for that ?

Xanadu, What that means is that you have a gene variant that hasn't been documented yet. Duh. A genetic mutation is a genetic mutation. Researchers have not found all of the mutations of CMS yet. There are over 100 so far. There are bound to be a LOT more.

What would be a wise thing to do is to send your little mutation off to UC-Davis (California) or the Mayo Clinic in Rochester, MN for further evaluation. They may know something which the "lab" your blood was sent to does not. And because of your case history, and that of your family, maybe a new "Xanadu" mutation will be discovered!

Seriously, just because it was not definitive does not mean there's nothing wrong. A negative test proves nothing. And you didn't really have a completely negative test. It did show a mutation in the gene. This is new field of study (relatively). Dr. Engel of Mayo (Rochester) was one of the pioneers of these discoveries. He is not seeing new patients but is still doing research.

Every time I hit my arm on a doorway, I get a bruise. Coincidence? Nope. When I got hives after eating peanuts and they went away after taking Benadryl, was that a coincidence? Nope. Cause and effect are often not "proven" with tests but experience. It seems to me that if the Albuterol works, then something is being made better. I'm really sorry no one will take this seriously and give you Mestinon. That's really silly. Can they do the Tensilon test there? And video tape it so there is PROOF?

I think sending a letter and sample off to Dr. Andrew Engel at Mayo is a fabulous idea.

http://mayoresearch.mayo.edu/staff/engel_ag.cfm

Very interesting. I hope you continue to feel okay.

Annie

The problem is my brain can't understand genetics The four variants found are Exon 3 instead of Exon 7. And 3 are 'documented polymorphisms' whatever that means. The last one is not yet documented but is considered unlikely to matter due to its position 'outside the protein coding region' whatever that means.. I had made my mind up that I was not going back the the neuro without proof as he was so rude, and I am not sure that this is proof. It is just a curiousity but not re to CMS ?? I guess it would be rather interesting to get my second cousin tested and see if she carries the same 'variant' but I am still not sure if this is a wild goose chase or not. My symptoms are so mild now as the albuterol has worked so well. But 20% of people respond to placebo anyway ... so ??? I am not sure if I am delusional for looking at these results and seeing an oddity or not!

I am quite busy, so I will be brief, but we can discuss it more later.

basically, there are many variabilities in the genome, which are called polymorphisms. some are of no clinical significance, others become important only in our response to certain medications, and other can cause diseases, or be a risk factor for diseases.

it was once thought that only those parts of the DNA that code proteins are important and all the rest is "junk". we now know that this is not true. in fact the non-coding regions have other roles (some of which I am sure we are yet to find) among which are regulation of other genes, by silencing them.

the way to discover new genetic abnormalities is by familial studies, and genetic physicians just love those cultures were there is a lot of in-breeding and cousins getting married to each other, because then they can get a lot of data from relatively few people.

the fact that so many people in your family are affected in various ways, strongly suggests that there is some mutation (possibly not yet discovered).
and if all those that are affected have this mutation, and all those that are not, don't have it, then most likely it is the cause of your illness.

alice