I know what it is from reading on line, but I have never heard of this being a problem. I am 10 years young in the breed, and I am sure it's a problem for someone.

I just don't know much abourt CNM. I know we can test for both EIC and CNM. I would lean more toward doing the test for EIC since people seem to know what that one is.

Thoughts?

CNM is established as a simple recessive and there is a definitive test which accurately identifies the status of a tested dog - clear, carrier, or affected. No debate on this test.

The EIC test identifies the gene "associated" with the condition and the true mode of inheritance of collapse has not been established to everyone's satisfaction.

Well put SWF. CNM is not just "associated" with as EIC is. It is, what it is. No debate here either.

If you really want splice hairs, the CNM mutation SEGREGATES with CNM:

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ.

Hum Mol Genet. 2005 Jun 1;14(11):1417-27. Epub 2005 Apr 13. Erratum in: Hum Mol Genet. 2005 Jul 1;14(13):1905-6.

It's just scientific vernacular. You're never going to see any scientific paper that says 100% guarantee that this is it and will never be proven wrong.

Optigen acknowledges the exact same things that EIC does in their glossary if you've ever looked through it.

Expressivity - Some diseases are very predictable in terms of age of onset and severity of symptoms. Such a disease is typically “expressed” in the same way in each affected individual. But some conditions, for example Toller PRA, don’t fit this description. They might have very different ages of onset, different degrees of severity, and/or different rates of progression even within the same line, the same pedigree, or even the same litter. One confusing result of reduced or variable expressivity is that a dog can be affected according to a DNA test, yet show no clinical signs of disease until much later, or show only mild and slowly progressing clinical signs of the disease. This dog must not be confused with a case of false positive.


Penetrance - The extreme case of reduced expressivity is incomplete penetrance. An inherited disease has incomplete penetrance in cases where the individual is known to have the affected genotype, but never shows the clinical disease. Even so, the clinical disease shows up again in its offspring. Clearly, the affected genes were present in the parent but the disease didn’t “penetrate” to a recognizable state. Again, this case must not be confused with a case of false positive. Incomplete penetrance has been documented in some PRA-affected Toller pedigrees.

I'm glad both of my girls are Clear/Normal for CNM!!!!

But what is it??? Not many talk about it. I've read the site where you can get info on the test, but how common is it. Why test for it when no one seems to have a dog affected by it? I know there are dogs with it. But heck, it's not like we debate it on here like ED, HD, TVD etc.

If you browsed through the archives of the hunting retriever forums, you would find LOTS of discussion. CNM seems to have a "founder" pattern and is diagnosed in PRIMARILY field lines.

I bred a dog who I believe is affected with CNM. The only one I know of and it was a litter I doubled up on a specific line I hadn't doubled on previously. A granddaughter to a son of a very well known and used stud dog who has since died of old age.
That's all I'll say.
I sold the seemingly normal pup as a pet and only found out there was anything wrong a few months later when the owner sent me videos saying something wasn't right. I had never heard of it either but after extensive research on the symptoms, I came up with that it looked like they describe CMN.
This was all before the test.
Since the test was developed, I have never been able to get the owner to allow a blood sample (what is it with people???) so I could do the test.
His mother was bred twice again to different lines and never produced an issue again.

CNM can be tested with a cheek swab.

I know, sorry. I meant to say he has never agreed to send any kind of sample in.
I just emailed him again since I haven't heard from him in about a year and a half.
Now it's on my mind again.
Thing is, his vet tried to tell him the problem was probably not genetic and could have been an injury to his neck
I didn't buy it then and I don't buy it now. Especially after reviewing the videos again.
So he never responded to my requests for a sample.
The dog wasn't nearly as bad as other videos I've seen but it still looks like the same thing.

There was no test before when you bred her and wisely veered away from repeating the breeding, but there is a test now. Why don't you just test the mother and see if she is a carrier or not? If she is not, it is not CNM, it is something else, because CNM is established as a simple recessive.That may help you with anything down the line that you kept, as your breeding program goes forward. Yes, it is a can of worms, but it is already open.

Sadly, the mother has been retired and placed in a pet home so that may be difficult as well.
I will be testing all future dogs. Not much consolation, but a step in the right direction.