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Thread: Study of SM in 555 asymptomatic CKCS: 70% affected by age 6

  1. #11
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    Default A little bit of history

    In September 2003 this leaflet below was sent out to all Cavalier Club Members. I was the Health Representative and I wrote it..............

    I often wonder whether the problem could have been contained if breeders had been honest about their affected dogs and proactive in using the low cost scanning schemes when they started in 2004.



    IMPORTANT PLEASE READ


    There is a rapidly emerging awareness of an inherited condition in our Cavaliers.

    Veterinary neurologist, Clare Rusbridge, and her team are conducting research into this condition and have found that 13 out of the 24 top stud dogs since 1998 have sired affected progeny. It is found in all colours, in all lines, and affects both sexes. While it remains unacknowledged it will continue to spread. This condition is called syringomyelia. This occurs when a Cavalier is born with not enough room in the space in the skull that contains the back of the brain. Damage is caused when fluid surrounding the brain is forced into the spinal cord.

    The most common symptom is scratching on, or in the air near the shoulder when the dog is excited or walking on a lead. However this is not the only symptom and it is not always present. Affected dogs and bitches can be sensitive around the head, neck and front legs and often cry, yelp or scream for no apparent reason. They can develop a permanently twisted neck or have a wobbling gait in the hind legs and/or weakness in their front legs.
    In severely affected cases the dog can suffer so badly that euthanasia becomes the only option.
    Signs are usually noticed in dogs between 6 months and 3 years but it has been diagnosed in Cavaliers up to 10 years old.
    At present the condition can only be identified by MRI scan or by clinical signs. There is not a test to identify carriers.

    Studies of pedigrees suggest that Syringomyelia is caused by two genes that have to be carried by both parents for an affected dog to be born. Although dogs displaying signs of the problem were seen in the past, it is thought that the two genes came together in a significant way when descendants of two bitches, born in the 1950s, were mated together in the late 1970s.

    Continual line breeding to the popular stud dogs of this era has increased the number of Cavaliers carrying both genes throughout the breed, and this includes many of the top stud dogs and brood bitches. It is these dogs whose genes dominate the pedigrees of the Cavaliers in our kennels, our homes and on our laps. No one is to blame because no one had the knowledge to identify the isolated cases as an inherited condition.

    Information about individual dogs and bitches given to the Veterinary research team is confidential. Names have not and will not be passed on to anybody in the Cavalier Club or elsewhere

    The problem is now widespread. There will be clear and carrier dogs and bitches in every line. Some breeders and stud dog owners may believe it is not their problem. In some cases they may not be aware that their dog or bitch has produced an affected Cavalier, and this is dangerous for the good of the breed. Owners are now being encouraged to inform the breeder if their Cavalier has a positive diagnosis. This problem, like MVD, is affecting us all.

    It is what we do now that is so important. The researchers believe that it may be possible to develop a DNA test which will identify which Cavaliers are carriers of syringomyelia & which are clear.

    DNA from extended families of dogs can be collected by blood sampling or, in some cases, cheek swab. Blood samples will be required from both clear and affected dogs and bitches. All donor dogs will be identified only by a code. It is hoped that it may also be possible to eventually produce a DNA for MVD from the same blood samples
    The Cavalier Club hopes that any breeder asked to provide blood samples will co-operate with this vital research.

    The search for a DNA test will take some time. The veterinary research team has provided what breeding advice they can (see below) At the moment we have no way of knowing whether our Cavaliers are clear or carriers unless they have already produced affected offspring.
    This problem could continue to spread until there are very few clear dogs and bitches from which to breed. To act now to develop a DNA test will not only prevent pain & suffering, but will also make good commercial sense.

    All dogs enjoy a good scratch. This may be because of a flea bite, ear mites or a skin condition. We must all resist the temptation of making ringside diagnosis.
    Honest and frank discussion is what is needed if breeders and owners are to pull together to find a solution to this problem.
    It is serious and it threatens all our Cavaliers.

    Current Breeding Advice
    Until we have a way of testing for the culprit recessive genes, this is what we recommend.
    .
    Affected Case
    Identified by MRI (confirmed) or suspected on basis of clinical signs (scratching at shoulder area when walking on leash or when excited) Not to be used for breeding, stop breeding from affected cases now.

    Unaffected known carrier (sire/dam and all offspring of an affected case) will have both genes. If mated with same will produce affected offspring. Use very sparingly. Mate only to unrelated dogs who have had no extended family history of syringomyelia. Keep other Breeders informed.

    Unaffected dog (it is possible that all Cavaliers will be carriers of one or more recessive genes) Do not mate with closely related dogs. Keep track of all offspring The time of onset of symptoms varies greatly, from weeks to many years. If you breed an affected dog tell any other breeder involved.

    For more detail please see the articles by Clare Rusbridge and Penny Knowler on the Club website: www.thecavalierclub.co.uk , the Club Magazine or send SAE to:
    Mrs M Carter, 47, The Ryde, Hatfield, Herts. AL9 5DQ.


    Information about dogs displaying symptoms of syringomyelia, especially those born prior to 1990, is still needed by the research team. Please contact: -
    Clare Rusbridge BVMS DipECVN MRCVS
    Stone Lion Veterinary Centre
    41 High Street, Wimbledon, London, SW19 5AU
    Tel. 0208 946 4228
    Email: neuro.vet@btinternet.com
    Margaret C

    Cavaliers......Faith, The Ginger Tank and Woody.
    Japanese Chins.... Dandy, Benny, Bridgette and Hana.
    Remembered with love......... Tommy Tuppence and Fonzi

  2. #12
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    Truly devastating. I want to throw one little thing out there " asymptomatic as declares by their owners". Does that mean their was no exam by neurorligst to determine if they were truly asymptomatic? As karlin has often pointed out: often an owner doesnt really know when their dog has symptoms because they dont recognize it or dont want to acknowledge ..
    Mom of Blondie aka The Monster, my furry daughter and loyal friend!!!!!!!!

  3. #13
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    Margaret, I found your letter from 2003 very clear and informative for me. you say in it:"it is thought that the two genes came together in a significant way when descendants of two bitches, born in the 1950s, were mated together in the late 1970s. "and - "Information about individual dogs and bitches given to the Veterinary research team is confidential" -which I do understand, But would it not have been really productive to make breeders aware of the two bitches that were thought to be the fore-runners for this condition? so that breeders could begin to breed away from these, as much as possible? In some instances can't confidentiality take a back seat, for the sake of minimising the spread of an inheritied condition? Also are blood tests still being done in the Uk to find the DNA?
    Last edited by Davecav; 22nd June 2011 at 09:14 AM.

  4. #14
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    Default STUDY OF SM in 555 ASYMPTOMATIC CKCS :CKCS 70%AFFECTED BY AGE 6

    Quote Originally Posted by Davecav View Post
    Margaret, I found your letter from 2003 very clear and informative for me. you say in it:"it is thought that the two genes came together in a significant way when descendants of two bitches, born in the 1950s, were mated together in the late 1970s. "and - "Information about individual dogs and bitches given to the Veterinary research team is confidential" -which I do understand, But would it not have been really productive to make breeders aware of the two bitches that were thought to be the fore-runners for this condition? so that breeders could begin to breed away from these, as much as possible? In some instances can't confidentiality take a back seat, for the sake of minimising the spread of an inheritied condition? Also are blood tests still being done in the Uk to find the DNA?


    STUDY OF SM IN 555 ASYMPTOMATIC : CKCS 70% AFFECTED BY AGE 6.

    Davecav


    I am thinking how to answer you, I was involved with the Research into the SM Cavalier Pedigrees from the 1950's but it would not be as easy as you think to Breed away from the SM Problem.

    There are now with the Figures just been given be many SM Carriers Around, just think about this , 70% at 6 Affected by SM, but even more Frightening is the Figure of about 90% of Cavaliers with CM, which because of the Brains too Big for the Skulls ,this condition hinders the CEREBRO SPINAL FLUID flowing and can cause SYRINXES to Form and this leads to SM.

    We just cannot kid ourselves any-longer ,is there a Future for our Cavaliers because of the amount of SM and CM Carriers that are around now.

    This is what being a Carrier Means,even although those Cavaliers who are not Afflicted with CM and SM, being a Carrier can when Mated to another CM or SM Carrier ,the Off- Springs have a good chance of having CM or SM.

    There has to be Fresh Genes brought into the Cavalier Breed from some-where ,or it is not going to Survive.

    Brian ,what a Excellent Post you Wrote about what has happened to our Cavaliers because of some Cavalier Breeders in Denial about the Cavalier Health Problems ,look no further than the CAVALIER MVD Problem ,and now the CM and SM looks as if it will be worse.


    Bet
    Bet (Hargreaves)

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    Quote Originally Posted by Karlin View Post
    Newly published paper from a research team including Penny Knowler and Dr Clare Rusbridge.

    Truly shocking figures -- in cavaliers with no symptoms, scans found SM already present in a FOURTH of all dogs by age 1 and 70% in dogs over 6.

    This means overall incidence in the breed is far higher than 70%, as this doesn't even include symptomatic dogs.

    What happens to all those young dogs that are diagnosed with a syrinx ?

    Do they end up in an unsuspecting pet market ?

    Or are the results disregarded and the dogs bred anyway ?

    Is that one of the reasons there is such a reluctance to publish scan results ?

    Maggie

  6. #16
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    Quote Originally Posted by tuppenlil View Post
    What happens to all those young dogs that are diagnosed with a syrinx ?

    Do they end up in an unsuspecting pet market ?

    Or are the results disregarded and the dogs bred anyway ?

    Is that one of the reasons there is such a reluctance to publish scan results ?

    Maggie
    If a promising show prospect the unscrupulous breeder will use them for showing and breeding and then sell them abroad, while still asymptomatic, on the strength of their show wins.

    Otherwise they are sold or given away, sometimes with no disclosure of diagnosis, sometimes with the new owners informed, although I suspect a rather optimistic view of the progress of the condition will be given.

    Some are put into rescue.

    You are right Maggie, at the moment no one can check to see if any cavalier being offered for sale or rehoming has been MRI'd. The new scheme will change that and make breeders more accountable.

    At the moment pet owners buying or rehoming young adult cavaliers should be really careful.
    I know many people that have realised that their new pet had mild SM symptoms from the day they first took it home.
    Margaret C

    Cavaliers......Faith, The Ginger Tank and Woody.
    Japanese Chins.... Dandy, Benny, Bridgette and Hana.
    Remembered with love......... Tommy Tuppence and Fonzi

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    Hi

    As a pet owner only ,where do we go who do we trust now ,the picture is so very bleak . My first little one Poppy I found through the K.C. AB scheme and the same with Rosie then being a bit more aware and wanting what I hope and still do was a quality Cavalier we got our Daisy a Loranka .Then when we decided on a B & T and we knew we needed to see certs and find a little one with A grade parents so we searched UK wide and couldnt find any, then I asked Margaret's help and found an 11 month old B & T in Glasgow who is an Ailcres and she became our Lily ,but thinking now are their chances of developing SM all the same ? Rosie has already been MRI scanned and we know is asymptomatic CM and I presume she could develop SM as all of them might. Are puppies bought through the KC scheme any worse or better than a puppy from a show breeder ?,it would
    be a hard task to try and find a puupy now I would be so confused ,would I go through the same procedure .
    Brian M

    Poppy the Tri, Daisy the Blen, Rosie the Ruby and Lily the B & T

  8. #18
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    I want to throw one little thing out there " asymptomatic as declares by their owners". Does that mean their was no exam by neurorligst to determine if they were truly asymptomatic? As karlin has often pointed out: often an owner doesnt really know when their dog has symptoms because they dont recognize it or dont want to acknowledge ..
    A good point. Almost certainly a number of these would be considered symptomatic if examined by a neurologist, but it doesn't really alter the shocking level of affectedness if some small subset had some mild symptoms.

    Perhaps more relevant is that many, probably most of these dogs in the sample were scanned for breeding programmes and belong to breeders so the failure to see symptoms in this case would demonstrate that many who say there are no signs of SM in their lines, but also do not scan, are truly 'in the dark' and damaging the breed through willful ignorance.

    The proper way to find a breeder remains the advice we offer here in the extensive links on finding a breeder. Look for one who scans, talk through the certs or results and other tests. A puppy is and always has been a 'buyer beware' purchase and a responsible pet buyer will screen breeders carefully.
    Karlin
    Cavaliers: Jaspar Leo Lily Tansy Libby (foster) Mindy (foster)
    In memory: Lucy
    Cavalier SM Infosite:www.smcavaliers.com

  9. #19
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    Quote Originally Posted by Davecav View Post
    But would it not have been really productive to make breeders aware of the two bitches that were thought to be the fore-runners for this condition? ? so that breeders could begin to breed away from these, as much as possible?
    Who can say if breeders would have changed their breeding programmes with that knowledge.
    As some of the most influential breeders continued to use a known MRI confirmed SM affected dog because he produced lovely puppies, I rather doubt if long dead ancestors would have been seen to have any significance.


    Quote Originally Posted by Davecav View Post
    Also are blood tests still being done in the Uk to find the DNA?
    Things have moved on a great deal & DNA is now usually collected by mouth swab.

    The most important source of DNA & RNA ( don't ask, just look it up ) for the genome research are probably the tissue samples taken at post-mortem. This is why the cavaliers volunteered to the Cavalier Collection Scheme are contributing so much to the future of this breed.
    Margaret C

    Cavaliers......Faith, The Ginger Tank and Woody.
    Japanese Chins.... Dandy, Benny, Bridgette and Hana.
    Remembered with love......... Tommy Tuppence and Fonzi

  10. #20
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    Originally Posted by Davecav But would it not have been really productive to make breeders aware of the two bitches that were thought to be the fore-runners for this condition? ? so that breeders could begin to breed away from these, as much as possible?

    Answer
    Who can say if breeders would have changed their breeding programmes with that knowledge.
    As some of the most influential breeders continued to use a known MRI confirmed SM affected dog because he produced lovely puppies, I rather doubt if long dead ancestors would have been seen to have any significance.
    Margaret


    Well it's a shame if that's the case; but there must have been some health conscious breeders who wanted to breed away from the condition in 2003 when you wrote the leaflet. It appears to be a missed opportunity that this information wasn't disclosed at the time.

    Maybe as you say, no-one would have cared to bother with it, but now nearly 10 years later Cavaliers are in even more need of helpful information being forthcoming.

    .

    Did anyone know the names of these bitches? (well someone must have!)

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