Friday, July 9, 2021

Until It Was

 

The Rise Of Elbow Dysplasia In The Mudi

Up until last year (2020), I was under the impression that Elbow Dysplasia (ED) was not a serious problem in the Mudi breed.  This is the problem with assumption, it often makes fools of us, and this is certainly the case with ED.  ED was not considered a Mudi breed problem…...until it was.

Elbows are usually checked at the same time hips are checked about 57.5% of the time. (In my database I have 1506 hip checks and 866 elbow checks = 57.5%.)  Although elbow checking is much more common today than it was 20 years ago, it is still not widely done. 

Patella Luxation (PL) has been a known Mudi breed problem for a longer time, and in a future article I will cover PL as well as one more orthopedic problem that is on the rise.

In the past months, I have learned of 2 young Mudis that have undergone bilateral elbow surgery due to ED, before they were 2 years of age. There are 24 other Mudis that have a score lower than the normal/0 score that elbows which are free of any signs of dysplasia are given by the various orthopedic associations. This adds up to a total of 26 known ED affected Mudis.

What Is ED and How Does It Occur In A Breed

The purpose of this article is not to discuss the diagnosis details, process or treatment of ED, you can find that information in the Reference and Source List at the end of this article.

The grading of elbows will be discussed in more detail later in this post, what is most important to know at this point is that 0, 0/0, Free, Mentes (this term means `free` in Hungarian) and Normal are official scores given to dogs with no signs of elbow dysplasia.  Any other score means the dog has some level of dysplasia in one or both elbows.

Symptoms of ED usually appear between 6-12 months of age but affected dogs may not be visibly lame until they are much older (4-6 years of age).  The typical signs of ED are lameness and an abnormal gait. ED is often bilateral (affects both elbows rather than just one) in 20- 35% of affected dogs (across all breeds), meaning it only affects one elbow in the majority of cases. Males are more frequently affected than females (across all breeds).  

Unilateral (affects only one side, left or right) ED, which is more common, is also inherited, meaning that parents having only one affected elbow pass off the genes for ED just as they do when affected with bilateral ED and their puppies can have one or both elbows affected with ED as well.  

ED can appear in puppies born from 0/Normal parents too, however, according to research, it is more likely to appear in puppies that have one or more affected parents, and the more serious the ED grade of the parent is, the more likely the puppies are to inherit ED, which shows that there is a moderately high component of heritability to elbow dysplasia.

Elbow dysplasia can be extremely painful for the affected dog, severely limiting activity and quality of life for the dog and its family. The onset of symptoms is usually early (under the age of 2 in most cases), and a significant number are bilaterally affected (both legs). Currently there is no satisfactory medical protocol or surgical procedure that would significantly alter the progression or cure the disorder. This poor response to medical and surgical management makes it increasingly important to reduce the incidence of the disease through selective breeding. By breeding only phenotypically normal individuals (only those with a score of 0/normal), a reduction in the incidence of ED has been shown to occur in other breeds. 

Multiple studies support the theory that the various components of ED are inherited. Although the heritability index and incidence does vary by the various factors studied, it does appear that ED is inherited polygenically with development being multifactorial, that is, both environmental factors and the additive effect of many genes contribute to expression of ED in affected dogs.

Until a DNA test is available for the detection of dogs genetically predisposed for ED, genotype can only be estimated by knowledge of the evaluations of the extended family and through elbow screening of as many dogs as possible, in particular, those dogs involved in breeding, those dogs which show symptoms, and those dogs which are closely related to ED affected dogs.

Breeding of dogs with 0/1 or 1/1 elbow results should be avoided, however if done with proper research and procedural implementation, it could be permitted with a limited number of dogs.

Any dog with a higher than 1 score should not be bred under any circumstances as the more serious grades of ED (2 and 3) have a higher chance of producing affected offspring according to research.

Evidence Supporting Genetic Inheritance of ED In The Mudi

For ED to be considered as a genetically inheritable disease in the Mudi breed, there must be some solid evidence.

The American College of Veterinary Ophthalmologists/Canine Eye Registry Foundation (ACVO/CERF) criteria for defining a disease as hereditary include:

1) There are published reports in the literature regarding a condition in a particular breed with evidence of inheritance.

ED is shown to be inheritable in several dog breeds, such as the Labrador Retriever, German Shepherd Dog, Golden Retriever, Bernese Mountain Dog, Newfoundland and Rottweiler (see reference list below for published reports).

2) The incidence of affected animals is greater than or equal to 1% of the examined population with a minimum of five affected animals per five years period.

The ED examined population is 866 Mudis, the number of affected Mudis is 26, which means the incidence of affected dogs is 3% (which is 2% greater than the required 1%) and there have been five or more ED affected Mudis in the last 5 years officially graded as having 1, 2, or 3 level ED. (Later in this article the ED affected Mudi statistics are provided.)

Direct family relationships to ED:

-2 littermate brothers (2007) are affected with scores of: 0/1 and 1/1

-2 littermate sisters (2014) are affected with scores of: 1/1 and 3/0

-One ED affected male with a score of (1/1) produced 3 affected puppies with 2/0, 1, and 3/3 scores

-One female that is either untested or has a non-publicized score, has produced 2 affected puppies with 1 and 1 scores each and is grandmother to 2 affected puppies with 0/1 and 2/0 scores

-One ED affected (1/1) male has produced one affected puppy 1/0

There are many other family connections between most of the 26 affected Mudis in just the first 2-3 generations of their pedigrees – that is, many share the same relatives or relatives that are closely related to them.

The data above clearly shows that ED is inheritable in the Mudi.

ED History In The Mudi

The first ED screening was made in Finland in 1995 with one Mudi, born in 1993.  The score was 0/0 as were the scores for the next few years.

The next ED screening took place with four Mudis born in 1996, examined in Finland (2), Norway (1) and Sweden (1).

Mudis have been screened for ED since the late 1990’s in increasing numbers, in 24 countries around the world.  The leaders in ED screening are Finland (363), Hungary (128+), USA (120+) and Sweden (104).

The numbers of ED examined Mudis worldwide for the last 6 years, by year of their birth:

2015 – 74

2016 – 64

2017 – 68

2018 – 101

2019 – 42

2020 – 8

Data Base Rules

I categorize the ED exam results by year of birth of the Mudi as the very first examined Mudis did not always have the date of the exam available. But mostly, as the age at which official scoring can take place has varied over the years and still varies by country today, Year of Birth is the unifying factor that makes the most sense.

While I know of 866 Mudi ED exam results, I do not know of every result, particularly in some countries, for example Hungary, this is why I follow the number with a + plus sign, as there are surely more than this number of screened Mudis in that country that I am not aware of, with both normal and below normal scores.

I do know of 99.9% of the exam results in Finland, Sweden and Norway as these countries list all results, pass or fail, on their kennel club websites.  It is my understanding that all Mudis undergoing orthopedic exams in these 3 countries will have their x-rays submitted, as there is no option to not send in the films. (So far I have confirmed this is true in Norway, I wait for confirmation from Finland and Sweden that this is still the case.) In these three countries, orthopedic screening is mandatory for litter registration, which joints have to be checked and what score is allowed for breeding, is possibly different in each of the 3 countries however. 

Of course there can be situations where a pre-screening has shown a less than normal expected score, which was not sent in for official evaluation.  Not sending x-ray’s is not helpful to those wanting to avoid mating of two carrier lines to avoid producing dysplastic pups, which the not submitted Mudi x-ray information could have provided. I believe this is why these 3 countries (and maybe some others I am not aware of) made submission of all x-rays mandatory with all results being made public as well. There is great benefit for breeding plans in knowing the below normal scores, as well as the normal scores. I truly hope more countries will provide this level of open database program soon.

Missing information is a much larger problem in those countries that allow the keeping secret of less than normal results, such as happens in the USA and Hungary.  Hungary has the more serious gap as there is not even a public list of normal, not dysplastic Mudis.  This loss is further compounded by Hungary having the largest population of Mudis, currently and historically.  This is a serious fault of the MKOE (official Hungarian orthopedic agency), the Hungarian Mudi breed clubs and the Hungarian government which oversees the management of the 9 Hungarian breeds.  The MKOE once had a public list, it disappeared many years ago, why, I do not know.

As I have done with epilepsy, I also do with orthopedic and other health issues, I keep track of the affecteds (A) and mark their parents as carriers (C), as well as their offspring.  Grandparents are marked as suspect carriers (SC). Incidence of ED can be seen on the 5 generation pedigree I have for each of the more than 10,000 Mudis in my database.  Only 5 generations are considered in health risk assessment.

Comparing Official Elbow Scoring Associations

ED scores of 0, 0/0, Free, Mentes or Normal, mean the dog is ED free. 

FCI country’s use scores of BL, 1, 2, 3, Enyhe (mild)=1, Közepes (moderate)=2, Súlyos (serious)=3, represent the various levels of ED found in the examined elbows. Some FCI orthopedic associations give one number score (2), and some give two numbers (2/2).  A slash / between numbers is used to separate the left elbow score / right elbow score. A score of 3 or 3/3 is the most serious level of ED. BL is borderline which is given in a few FCI countries for elbows that are not 0/0 free, but also not 1/1. I mark BL as .5 in my database as BL is not an ED free score. BL does not indicate if one or both elbows are affected. I am aware of only two countries with resident scored Mudis that use BL for elbow scoring, Germany and Greece. Every FCI country has its own system which tends to change from time to time, but most FCI countries use only numbers now.

For those FCI scoring associations that only use one number scores, the general rule is to use the score of the more seriously affected elbow, for example in the case of left elbow is 1 and right elbow is 2, the score will be 2. 

OFA uses the word Normal for ED free and Grade I, II, III for levels of ED.

The FCI countries allow Mudis as young as 1 year of age to be screened for orthopedic evaluation (hips, elbows, patellas, shoulders, spine).  Public score listing is dependent upon the Kennel Clubs in each FCI country. 

The OFA requires Mudis to be 2 years of age for all ortho screening.  You can submit x-rays younger than 2 years of age and get a Preliminary score, but in this case the films are only graded by one vet, not the usual team of 3 vets.  In my experience, the Prelim score is usually not the same result as the official score, so spending money on Prelims is not recommended. OFA will list all scores on their website if the owner of the Mudi being graded agrees.  Many owners and breeders only allow public listing of passing results. 

BVA (British Vet Association) uses the grading scheme of 0 = normal/free, and grades 1, 2, 3 for the varying stages of elbow degradation; they give the overall grade that is the worse of the two elbows, meaning, if one elbow is 1 and the other is 0, the grade will be 1, as they use the single number system for scoring.

BVA screening requires all dogs to be at least 12 months old before they can be officially scored under the BVA/KC Canine health scheme.

PennHip does not do elbow screening.

Important Note: *Hungary does score the elbows separately on the official exam result certificate, the official score only lists a single score such as Mentes (which = Normal/Free/0) or Enyhe (= Mild/grade 1) etc., this means without my seeing the second paper that comes with the official certificate that gives specific exam details, I cannot know if the score was the same for each elbow or different, therefore it is not possible to know on all Hungarian results if the elbows were unilateral or bilateral affected.  Free/Mentes/Normal results can only be 0/0 ED free if both elbows are clear.

Mudi Breed ED Statistics

I will use the FCI scoring system for listing of scores to make the statistics easier to follow: 0/0=Normal or Free; .5/BL, 1/1, 2/2, 3/3=levels of ED.

Out of the 866 Mudis Tested since 1995, 26 have been scored with .5/BL, 1, 2, 3 grade elbows. (840 scored 0/0)

These 26 scores equate to 3% of the 866 tested Mudis having dysplastic elbows.

The first Mudi to have a below normal ED score was in Hungary, she was born in 1999 and the score was 1/0. The second was also in Hungary, she was born in 2002 and the score was 1/1.  The third below normal score was also a Hungarian tested Mudi, he was born in 2003 and his score was 3/3.

The sex ratio of below normal ED scores is: 14 males to 12 females, the difference is not significant statistically.  Although the research ratio across all breeds shows a higher percentage of males having below normal ED scores, the lack of sex ratio difference in the Mudi can be due to the lower number of known results. Also more Mudi females than males have been screened: 419 males / 447 females.

Two of these 26 ED affected Mudis have required bilateral elbow surgery, both were under two years of age at the time of surgery and both were females. Year of birth is 2012 and 2020.  One is in Hungary, the other lived in South Africa at the time of surgery.

ED Score statistics:

0/0 ED grade: 840

.5/BL ED grade: 2 males, born 2015 and 2018; tested in Germany and Greece

1/0 or 0/1 ED grade: 9 Mudis; 4 males, 5 females; born from 1999 to 2017; testing done in Finland, Hungary and Norway

1 ED Grade: 2 Mudis; 1 male, 1 female; born in 2015 and 2019; tested in Sweden and USA

1/1 ED grade: 4 Mudis; 2 males, 2 females; born from 2002 to 2014; testing done in Finland

1/1 or 1/0 ED Grade: 4 Mudi males; born from 2007 to 2014; testing done in *Hungary, see note above

0/2 or 2/0 ED grade: 1 female born in 2018; tested in the USA

3/0 or 0/3 ED grade: 1 female born in 2014; tested in Finland

3/3 ED grade: 1 male, 2 females; born from 2003 to 2020; tested in Hungary and South Africa

Unilateral grade = 11 --> 4 males; 7 females

Bilateral grade = 7 --> 3 males; 4 females

Unknown = 8 (ED score does not indicate unilateral or bilateral diagnosis) --> 7 males; 1 female

ED below normal scores, by Year of Birth:

1999 – 1

2002 – 1

2003 – 1

2007 – 4

2008 – 1

2010 – 1

2011 – 1

2012 – 2

2013 – 3

2014 – 3

2015 – 2

2016 – 1

2017 – 1

2018 – 2

2019 – 1

2020 – 1

Of these 26 ED affected Mudis, 14 have been bred further, 12 have not been bred. 

These 14 ED affected and bred Mudis, have produced 255+ puppies in 50 litters (+ = I am missing complete litter data for one male).  These litters were produced in Finland, Hungary, USA and Greece.

The ED scores of the 14 below normal parents which produced litters range from: .5/BL to 2/0, with the majority having 1, 1/1, or 1/0 ED scores.

My Personal ED Experience

The second Mudi affected with a lower than normal grade score was born in Hungary in 2002, the score was 1/1 and this Mudi happened to be my own Mudi, Angel (Ôzugrató Angyal).  When I publicized my litter plans, I always included all health test results for the parents, so her 1/1 ED score was not a secret.

In the first years of this century, ED knowledge was not widely available, but common sense told me to breed only to 0/Normal males and that is what I tried to do, however in those days, most Mudis were not even hip checked, and elbow checks were extremely rare, with only 44 Mudis being ED checked in Angel’s age group (born from 1993-2002) from the entire Mudi population. 

Angel had 5 litters (21 puppies total) with 5 different males, which had 0/0 elbows (2 males) or had no elbow check (3 males).  I knew these males and they showed no signs of limping, nor had I heard of any problems in their pups with other females.

In the first decade of this century, ED was just not thought of as a health concern to Mudi breeders or owners and 1/1 elbows was not considered to be a serious issue by vets or breeders at that time.  Angel lived to be 14.5 years old and never showed any signs of elbow pain or abnormal gait.  Of her 21 puppies, 7 were elbow scored and all given 0/normal.  Of her tested grandchildren, all tested normal/0. None of her pups or grandpups owners reported an elbow problem.

Do I consider Angel elbow dysplastic now, yes of course, her elbows were not 0/normal, which means her relatives were also responsible for her 1/1 elbows.  Over these past years of tracking ED, her pedigree showed other relatives being connected to ED in her 3rd and 4th generations (several Mudis born in 1991). 

If I consider what I know about ED now and look at the pedigree risk today for the males Angel was bred to, it would not have been impossible for some of the pups to have had elbow problems.

Sires of Angel’s 5 litters:

Bajnok is listed as an ED Carrier in my database as he parented the first known Mudi to have a 0/1 score, she was born in 1999. He also has numerous ED-SC’s on his pedigree.

Csoki (ED 0/0) is an ED-SC in my database, which means he is the grandparent of a puppy with a below normal grade score. He also has numerous ED-SC’s on his pedigree. Csoki’s uncle is Bajnok.

Betyár’s (ED-0/0) parents are carriers as he has a close relative that has a serious ED score.  Although Betyár himself is not listed as a Carrier or Suspect Carrier, his parents and grandparents are, but they are the only ones on his pedigree.

Cimbora has one parent that is a Suspect Carrier and one grandparent is a Carrier.  There are a few ED-SC’s in the later gens of his pedigree. This was probably the least risky male of the 5.

Lantos is an ED-Suspect Carrier as he is connected to a below normal ED score grandpuppy. He has one other ED-SC on his pedigree.

Knowing the ED history of these males, it is doubtful I would have chosen any of them to breed to Angel today and looking through the males born in the last decade, while not impossible, it would be a challenge to find a suitable mate without close connections to ED for her.  

ED In The Mudi Gene Pool

How can the genes for ED be so widespread in the Mudi gene pool so quickly since ED is only now coming to the forefront of Mudi breed health problems?

First: the earliest occurrence of a below normal ED score was from a Mudi born in 1999, that’s more than 20 years ago.  Since that time, below normal scores were occurring and more than half of these below normal ED Mudis were being bred to make 50 litters which produced 255+ puppies in several countries of the world.  The pups from these litters were also bred and some were exported to other countries to become breeding stock. Many were not elbow tested.

Second: not enough Mudis are being screened for ED.  And some that are examined and have below normal scores are not being revealed publicly. This has gone on since ED screening began.  This does not help breeders to avoid putting two carrier lines together.

Third: breeding quick and for quantity (lots of puppies to sell), size (medium class agility sized Mudis), sports performance (aiming for behavior and temperament traits assumed to secure high level competition success), and other single goals, does not allow room for consideration of health issues as much as would be required for maintenance of health in a breed. 

Fourth: many breeders think you can only get a good sport or show dog by breeding a good sport or show dog to another good sport or show dog, thus severely limiting the available mates they can choose from.

By following these styles of breeding today, and not recognizing the presence of ED years ago, the Mudi gene pool was able to become infected with carriers over the last 20+ years.

Connecting The Dots Of the Affected Mudis

Important note: If an ED affected Mudi came from two parents from the same kennel, but was born under another kennel name, I considered the kennel of the parents to be the reference kennel.  In mixed kennel parentage, the name of the kennel which produced the litter was used.

Seven Mudi kennels produced 16 (of the 26) below 0/normal ED grade pups, this means that 7 kennels are responsible for 61.5% of the affected pups.

Ten Mudi kennels produced only 1 ED affected puppy (of the 26) which is = to 38.5% of the affected pups.

Two Mudi kennels had littermates with below normal grade ED scores, one set was brothers and the other set were sisters. Both litters had a very low COI (Coefficient of Inbreeding).

With further regard to COI, the range of the 26 ED affected Mudis is:  0.00% to 18.31%.

Six below normal ED grade Mudis had what is considered to be a high COI (above 12.5%). One kennel produced 3 of these high COI puppies, including the one with the highest COI.

A COI of 6.25% or lower is considered optimal for a breed, 8 lower than normal ED grade Mudis were 6.25% or lower.

A COI between 6.50-10% is still within preferable limits, 11 lower than normal ED grade Mudis were in this category.

A COI between 10.25-12-50% is still within acceptable limits, there was 1 below normal ED grade Mudi in this category.

It is very complicated to correlate COI to a health issue directly, ED is not an exception.  If I were to do a simple percentage rate calculation, 6 high COI Mudis = 23.1% of the 26 affected Mudis.  While this is not insignificant, it does not give any clear association between ED and high COI.

However, if you look at the 6 high COI affected Mudis, 50% are coming from just one kennel which is a cause for some concern, as the other 3 high COI ED affecteds come from 3 different kennels.  This indicates inbreeding within the same lines can cause more ED affected individuals to occur which is one of the well known side effects of high inbreeding levels.  Therefore inbreeding on higher risk ED lines is definitely something to be avoided.

Another important note:  Not all COI’s are created equally.  I have seen many COI’s being given for Mudis or Mudi litters that are not correct.  I saw the mistakes in this COI providers database several years ago.  As this provider is also a breeder and tends to do line breeding, the errors are compounding behind the mistaken parents they have entered. In most cases the COI they provide is noticeably lower than the one I provide, and in a very few cases the COI they give is higher.  Having a precise database, means everything when it comes to COI accuracy.  While getting a COI that is approximately 2-3% lower than it really is, may not seem to be that much of a difference to some people, it is of critical importance to those that want a low COI Mudi.  If you want to cross check any COI with me, you are very welcome to do so, it only takes a minute or two in most cases and I don’t ask questions about why you are asking.  If there is a difference, I can often explain why.  Also, I always compare my pedigree based COI to the Embark GCOI (Genetic COI) and my COI in the vast majority of cases thus far, is very close to Embarks.  If you would like to share your Embark GCOI with me, I welcome the opportunity to compare!

Reducing Occurrence of ED In The Mudi Breed

To stop the continuing occurrence of Elbow Dysplasia in the Mudi breed, there are several things which must happen, and it has been proven that taking steps through testing and breeding guidelines can reduce the occurrence of ED in a breed. What are these steps?

1) ED screening must be done on as many Mudis as possible; it is best if done around 2 years of age.

2) ED screening is mandatory on all breeding Mudis.

3) ED screening results must be made public, regardless of score; there are places to do this if your country does not have an open access database, such as the FB group Mudi Health, which has more than 1,000 members from around the world (link below).

4) Breeding of only 0/normal, ED scored Mudis should occur.

5) Use lines that are low ED risk when breeding with higher ED risk lines, and only breed puppies from litters that have all 0/normal ED scores for every puppy. (I give free ED risk scores for any planned or existing Mudi litter, or any individual Mudi, to anyone.)

6) As there seems to be a possible connection between high levels of inbreeding within the same related lines, linebreeding with COI levels above 10% should be strictly avoided. (I give free Mudi breed COI’s to anyone.)

7) Support breeders and owners that make ED exam results public.

8) Do not buy a Mudi puppy from parents that do not have a public ED test result of 0/normal or will show you the exam certificates when asked (it’s better if they have them available without asking on their social media platform or another publicly accessible website) – only support those breeders with your patronage that are trying to reduce the incidence of ED in the Mudi breed.

9) In very rare cases, the use of an ED 1/1 or 0/1 score Mudi in breeding can be done, but only with extreme caution, research and planning. The mate must have a 0/normal ED score and come from very low risk lines.  All of the puppies in the resulting litter must be ED tested at 2 years of age (not younger) and the results must be published, and no breeding of these pups must take place without the entire litter having a 0/normal score. Further breeding of the ED 1/1 or 0/1 parent would need to follow the same litter planning, however no more than 2 litters should be bred.

10) Mudis with elbow grades of 2 or 3 have a significant chance of ED being passed on to the offspring and should not be used in breeding under any circumstances.

Elbow evaluation should be one of many mandatory aspects of a comprehensive Mudi breeding program.

Mudi puppy buyers have an obligation to their new canine family member and the Mudi breed, to source their Mudi puppy only from a responsible breeder.

 

Score Charts


 



FCI


 

Reference and Source List:

file:///C:/Users/user/Downloads/elbowarticle.pdf

https://dogwellnet.com/content/health-and-breeding/screening-tests/non-dna/elbows/elbow-dysplasia-r213/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883289/

http://www.vet-iewg.org/wp-content/uploads/2017/02/proceedingsiewg2012.pdf

https://cgejournal.biomedcentral.com/articles/10.1186/s40575-015-0021-x

https://www.acvs.org/small-animal/canine-elbow-dysplasia

https://vetspecialists.co.uk/fact-sheets-post/elbow-dysplasia-fact-sheet/

https://pubmed.ncbi.nlm.nih.gov/9760396/

https://pubmed.ncbi.nlm.nih.gov/18547017/

https://physio-vet.co.uk/blog/is-elbow-dysplasia-in-dogs-genetic/

https://www.ofa.org/diseases/elbow-dysplasia

http://www.fci.be/en/Hip-and-Elbow-Dysplasia-162.html

https://www.vin.com/apputil/content/defaultadv1.aspx?id=3859093&pid=11223&print=1

https://www.hamptonvetcentre.co.uk/practice/bva-scoring/

https://www.facebook.com/groups/295882233792474

 

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