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JUNIOR MYOCLONIC EPILEPSY (JME)


 

4 May 2016


Novel epilepsy gene in Rhodesian Ridgebacks –  more samples needed

Professor Hannes Lohi’s Canine Genetics Group in collaboration with professor A. Fischer (Munich, Germany) have discovered a novel gene for juvenile myoclonic epilepsy in the Rhodesian Ridgeback breed.
Rhodesian Ridgebacks (RR) suffer from a form of juvenile onset (1,5-18 months) epilepsy that is characterized by strong muscle jerks or twitches. The seizures usually happen at rest but can occur at other times as well. Some dogs also develop generalized or absence seizures. The severity of the symptoms and the dogs’ response to treatment varies.
So far we have tested ~300 RRs for the mutation. The carrier frequency is ~15% for a recessive mutation. Only the dogs that inherit the mutation from both their parents suffer from the juvenile onset myoclonic epilepsy. The carrier dogs do not show any signs of this myoclonic epilepsy.


To further analyze the prevalence of the mutation in the breed and to identify genetically affected dogs for additional clinical studies we hope to recruit more RR dogs for free genetic testing. We ask also the owners of epileptic RRs to fill in our epilepsy questionnaire. All owners who have sent blood samples before 31.5.2016 will get a free gene test. Test results will be informed as soon as possible but latest 15.7.2016.

25 January 2017 - The article about the JME has been published and therefore the commercial test.

In order to read the complete article go to:

http://www.pnas.org/content/early/2017/02/17/1614478114.full

From now on we can avoid ill puppies from this type of epilepsy. The breeders must test their breeding stock. If the result is Free, it is perfect, we can choose any male or female. But if the result is Carrier we can only breed with a Free partner.

Please, don't eliminate the carriers from breeding. They surely are free from any other disease that we can't test right now. If we do, we are narrowing the gene pool of the breed and that is worst, that is the end of the breed.

Laboratories to make the genetic test:

Generatio : http://www.generatio.de/index.php/en/

GenoCan: http://www.genocan.eu/en/

Genoscoper: http://www.genoscoper.com

Laboklin - http://www.laboklin.com - (breeders and members of the RSCE or other clubs have discount)

Resources:

http://www.koirangeenit.fi/english/?x273069=476571


Facebook group:

Myoclonic Epilepsy in RR


Videos:

Rhodesian Ridgeback with juvenile Myoclonic epilepsy

Personal experience:

In 1999 I bought my first RR, a 2 months old puppy, tiny and red and I called her Ghintza. Few days later, I realized that she did a very strange movements with the head, like little jerks. I phoned the breeder and explained the situaition and she told me that she had never heard about it and probably it was nothing. I also told to the vet and he didn't know anything about it, it was also very difficult to show as meanwhile we were at the clinic, Ghintza was completely fine and he couldn't see any jerk. When Ghintza was 1,5 years old more or less she had her first epileptic seizure, great jerks, lot of drolling on the mouth, screams...

I was shocked, of course I phoned the breeder inmediately, I told the breeder about the epilepsy and I asked her if she knew about her parents or grandparents being affected with this illness. I also went to the vet to see what how I had to proceed.

Of course the little jerks never disappeared and now I also had the epileptic seizures to deal with. I started to give her Phenobarbital, we had to find the correct dose, till we did she had some more seizures.

In every seizure I had to take care of her, I had to keep her away from the furniture to avoid she hit against it. When the seizure was finished she had to be in a room quiet and dark till she was fine again. I could control this seizures (grand mal) with the phenobarbital but I never could control the little jerks.

I never filmed a video, on those days we had no phones with camera... so it was more difficult to do it.

But something I had really clear was that I didn't want to breed with her, so I spayed her. She was the one who made me be aware of the great importance to breed with healthy dogs. Years later, I knew about one of her sisters, she also had epilepsy. That confirmed us that it was genetic epilepsy. Also a similar breeding gave puppies with neurological problems, so I was 100% sure that genetics was involved.

Now in 2016 some videos about other RR have appeared in the medias and I just remember my Ghintza.

 



 


 

 

 

 
   
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