View Full Version : New genetic mutation identified: muscular dystrophy in CKCS

12th July 2009, 11:36 AM
This may be another diagnosis for weak limbs and confused with SM or Episodic Falling Syndrome. People might want to inform their vets including those outside the UK! This was published in the Vet Record in July 11 2009:


We have recently identified the genetic cause of a form of muscular dystrophy in CKCS. The causative mutation is in the dystrophin gene and the X-linked disease is associated with weakness, muscle atrophy and exercise intolerance, detectable from a few months of age. Prominent signs in affected dogs are dysphagia and macroglossia (enlarged tongue). Serum creatine kinase is usually markedly elevated. Male dogs with the mutation clinically affected and female dogs with the mutation are silent carriers.

We are also keen to hear from veterinary surgeons who believe they may have seen an affected dog in their practice, in order to estimate the prevalence of this disease and limit its spread by genetic testing.

Richard J Piercy, Gemma Walmsley, Dept of Veterinary Clinical Sciences, RVC, North Mymms, Hatfield, Herts, AL9 7TA
Email: rpiercy@rvc.ac.uk

12th July 2009, 05:09 PM
I read this article, and my first thought was: not another unique disorder for the CKCS! The researchers don't give any statistics, and I have not heard of any Cavaliers with the symptoms of atrophy combined with a thickened tongue and difficulty swallowing, plus the victims being only males.

But I think the most interesting thing about this research is that they discovered the gene mutation before we really had even known about the disorder. It is very comforting to now know that there are researchers focused on the Cavalier's genetic disorders, to the extent that they can identify a mutated gene without first having to be aware of that the disorder exists.

12th July 2009, 05:17 PM
One researcher mentioned that the condition has been known about in the breed for a few years, but that it doesn't seem to be very common. On the other hand, given some early responses I've had, I know this condition comes as a surprise to some experienced, longtime cavalier owners and breeders, so would guess it may get misdiagnosed as well. And it is of course also another of those genetic conditions you'd not want to begin to concentrate in the breed... the identification of the gene by the Royal Veterinary College in the UK is to be welcomed. :)

It gives another condition to check for if a cavalier is presenting with limb weakness -- but sounds like there'd be a lot of other things going on too.

13th July 2009, 02:53 AM
I searched a bit since my last post, and I found that a similar disorder is "not uncommon" (whatever that really means) in the golden retriever, and less so in a few other breeds. The CKCS is not included in any of those lists, all of which precede, obviously, the July 11, 2009 article in the Veterinary Record.

13th July 2009, 08:07 PM
Thanks for that additional info. Yes 'not uncommon' is not too helpful is it?!