The Epilepsy Holiday Express Train

All Aboard

The end of 2023 and the start of 2024 brought the sad news of more seizure occurrence.  Rather than ringing in the Christmas holiday and the New Year with health and happiness, several more owners had to face this holiday season with seizures in their beloved Mudi.

From December 2023, until just after the New Year, I became aware of 6 more occurrences of seizures.  While I only just learned of these cases, that does not mean they all recently started to have seizures, some have had seizure occurrence for more than a year.

Some disclosures of epilepsy diagnosis are private, and the owner usually does not want to make their name or their Mudis name public information, however they have always allowed anonymous discussion of the case details.  Some owners over the recent years have chosen to make their Mudis epilepsy public, either on social media, or a public website. Even though it is already public information, I usually contact the owner to let them know I am making a new epilepsy post and I plan to include their Mudis case information (with their nickname or anonymous as they prefer), I sometimes also ask if I can use a photo, this has never been a problem, with one exception.  I will honor ‘no discussion’ requests of publicly available information as much as possible, however, as I deal with statistics, data analysis, research and presentation of valuable data and information to the Mudi community, a Mudi cannot simply be excluded from data and its related discussion, as if it did not exist, especially as the information was already made public by the owner themselves.

Altogether 6 new cases of seizure occurrence were publicly and/or privately disclosed in December and early January.  In most cases the public disclosure was on social media or a website.

In many cases, I have received veterinary documents that confirm the diagnosis of Idiopathic Epilepsy (IE). Please understand that it is not possible to share veterinary documents or videos with anyone as they do not belong to me. 

These are just the most recently revealed cases, as during the last year there were other cases of recurrent seizures as well.  The current count of confirmed and unconfirmed cases is 84, with 54 being confirmed cases.  It does happen that some unconfirmed cases eventually become confirmed when veterinary reports, test results, seizure videos or other corroborating data or documentation is finally provided. Almost 20 Mudis have died from seizures or epilepsy related issues since January 2000.

References and links*¹ to further information are provided at the end of this post.

First Station: Denial and Responsibility

One thing that stands out from these 6 additional cases, is the lack of reporting by even one of the breeders that created these Mudis, it was only the owners that seemed to think it was important to make the seizures their Mudi was having, known beyond themselves. 

There have been allegations by some breeders ‘‘that the seizures are not the fault of the parent from their kennel, but it is the other parent of the litter that is responsible’’, which is a handy excuse when the other parent just happens to come from another kennel.  This claim is simply not possible as it would mean that epilepsy was caused by a dominant gene, therefore one parent would have to be an epileptic to produce epilepsy in their puppies – this is how a dominant gene works. Also, if it was caused by a dominant gene, there would be more epileptics born in every litter they produced.  Furthermore, there would be epileptics everywhere if it was dominant – as now exists with merle and NBT/natural born short tails – as merle and NBT are caused by dominant genes. This means that the IE that occurs in the Mudi is caused by recessive genes*², which are carried and given by each parent of an epileptic, not just one parent.  But an even more ridiculous version of this excuse is when the breeder claims “that seizures are not inherited*², but whatever is happening comes from the other parent”, which is again conveniently not from their kennel.  Shifting blame to the other parent/breeder, is an easy excuse to allow further breeding of their own dogs, rather than correctly sharing the responsibility to remove close relatives from the gene pool. 

Breeders are also quick to claim that the epilepsy seen in the Mudi cannot be inherited*² as there are no other close relatives with epilepsy or close relatives that have produced it further in their lines, or in other kennels that also use their lines.  If that was the case, I would not be writing this article. Relative/family connections will be covered later in this post that will show this excuse, or belief, is also very inaccurate.

Another commonly given cause for seizures by breeders is a brain tumor*³, but why are brain tumors better to have as a cause of seizures than epilepsy?  Why would a kennels lines being more prone to brain tumor development, be better or more acceptable than having a line more prone to epilepsy?  There is no reason a brain tumor should be more acceptable as the cause of seizures than IE, knowing that the prognosis*⁴ of a brain tumor is less likely to have a happy ending or to be more affordably and/or successfully treated, than IE. Additionally, statistics illustrate that more than five dog breeds*⁵ show that they are especially predisposed to developing brain tumors.  If all of these 84 Mudis have brain tumors causing their seizures, they will be adding the Mudi to that list of predisposed to brain tumor breeds tomorrow.  Plus, while brain tumors can occur at any age, they typically happen in dogs over the age of 5*⁶, whereas almost every one of these 84 Mudis was under 5 when the seizures were first seen. Also, research has shown that brain tumors occur in approximately 15 of every 100,000*⁷ dogs, that is equal to 0.015% occurrence rate, meaning 0.015% of the 13,000 Mudis in my database = 1.95, if we round that up to 2, it means that 2 of the 84 Mudis with seizures could have been from a brain tumor.  The brain tumor excuse simply does not add up, but even if it did, why is a brain tumor more acceptable than epilepsy?

Head trauma is also a popular alternative cause for seizures and while head trauma*¹² is possible, dogs have thicker skulls*⁸ than humans, giving them greater protection against injury.  Less severe head trauma, such as concussion*⁹, does not cause seizures. Head trauma injuries, serious enough to cause seizures, are not going to go unnoticed by the owner as there will be external evidence*¹⁰ such as skull fracture, jaw fractures, bite wounds, soft tissue injury on the head, bleeding from the eyes, nose or ears, or bleeding inside the eye (ocular hemorrhage). A dog will also exhibit other common signs*¹¹ of serious head injury such as lethargy, reduced consciousness, a dazed or disoriented appearance, paralysis of one or more limbs, abnormal or different sized pupils, vision deficits or blindness, seizures, circling, pacing, head pressing on objects, or other manic behavior, abnormal respiratory patterns (such as heavy or rapid breathing), or abnormal heart rate or rhythm. Surely any owner would take a dog with any of these outward signs or symptoms immediately to a vet.  Also, most dogs do not have seizures*¹² following serious head injury and when it does occur, they most often happen immediately after the injury and in the early post trauma period*¹³ (24 hours to one year after the head trauma).  Serious head trauma left untreated by immediate veterinary care, typically progresses, and leads to permanent brain damage or death*¹⁴, which is certainly not going to go unnoticed. Consequently, there will be a paper trail from a serious head trauma occurrence in the form of veterinary bills, which I have never seen provided by any owner or breeder. 

Walnut poisoning is also a popular seizure cause excuse, and while moldy walnuts can cause many symptoms, only one of these is seizures, and once the walnut mold toxins are cleared from the dogs system, there are no more seizures.  The diagnosis of IE only occurs after a dog has had more than one occurrence of seizures from an unknown cause, whereas walnut poisoning is a known cause, whether due to consumption of moldy walnuts or black walnut leaves, shell, bark or wood.  (In Hungary and Europe, English Walnut trees*¹⁵ (Juglans regia) are commonly grown. Black walnut trees (Juglans nigra)*¹⁵ are mainly grown in the USA and Canada.)

The newest popular excuse given by breeders for seizures is the use of particular flea/tick preventatives*¹⁶.  There has been quite a lot of scientific investigation into these treatments, and they have been shown to only cause seizures in a very small percentage of dogs that are prone to having seizures, but they do not cause idiopathic epilepsy.  Adverse reactions*¹⁷ can be seen as soon as 15 minutes, up to 12 hours after administering the product. Most adverse reactions are mild and go away on their own, with most mild to severe clinical signs resolving within three days. Severe adverse reactions do require veterinary care and with prompt treatment the recovery is expected to be full.  This means that if there are any seizures caused by these products, it is a one-time event that will not reoccur as long as you don’t use that product or similar products again.  In the case of idiopathic epilepsy, seizures will eventually reoccur.  In five of the six currently covered cases, the use of these specific flea/tick treatments was not reported to be the cause of the repeated seizures.  In case ‘Four’, the owner did not mention what was the cause of the seizures.

With this level of breeder reporting, denial and alternative reason blaming, it’s no wonder the occurrence of seizures is continually growing, and occurrences will only head down this track faster and faster like a runaway train.  And what should be equally concerning to owners and breeders is that besides epilepsy, there are other health issues quickly burning up the tracks. 

Case Exploration Station

These most recently disclosed seizure cases require some further exploration so those in the Mudi community can be aware of the correct information, not false details, or rumors, for their own personal needs and verification.  I decided to assign a case number, in no particular order, as the ‘name’ of the Mudi, to give anonymity to all of these Mudis, rather than just to those that requested it, that is the fairest way to proceed, as the facts of their case are what is most important here, not their real name. 

Case ‘One’:  ‘One’s’ epilepsy diagnosis was disclosed on social media. Someone also added a note about their seizure activity to a public website. I have spoken to the owner of ‘One’ in great depth.  I have detailed veterinary documents of their diagnosis of epilepsy from unknown cause (IE), from a well known veterinary clinic.  There is no mention in the detailed veterinary documents that ‘One’ was given flea/tick medications that are suspected to cause seizures, before or after their seizures began, ‘One’ has only used a Foresto*¹⁸ collar and Milprazon*¹⁹ wormer which are long ago and widely used treatments not known to be causative of seizures*²⁰ – these and only these flea/tick/worm treatments are clearly written in the vet documents.  Unfortunately, the public disclosure of ‘One’s’ diagnosis of idiopathic seizures met with the usual rude treatment of the owner, both publicly and privately.  It continued with one or more individuals privately contacting other Mudi people with the goal of discrediting the owner, claiming that the owner was not mentally stable, they used flea/tick products known to cause seizures, as well as many other drugs the dog was being given for other health issues, as the real causes of the seizures.  Again, I have the detailed veterinary diagnosis that ‘One’ is being treated for epileptic seizures without known cause.  An MRI was not done, and does not need to be done, as it will mainly rule out a brain tumor as the cause, which due to the facts given previously above, make a brain tumor much less likely to be the cause of their seizures than idiopathic epilepsy.  However, if the breeder or anyone else is so determined to insist that an MRI is the only thing that will convince them this is IE and not a brain tumor, then they should pay for the MRI themselves.  You should bear in mind that the diagnosis of IE was correctly made for many years before MRI was invented, and the correct diagnosis of IE can certainly still be made today without performing an MRI.  Another reason to avoid the high cost of an MRI is that time will tell if it is a brain tumor or not, as a brain tumor will almost surely progressively worsen, rather sooner than later, and be supplemented by many other symptoms that do not accompany IE.

Case ‘Two’: ‘Two’s’ seizure activity was discussed on social media and also with the breeder. However, the pedigree name of ‘Two’ was not disclosed publicly by either the owner or the breeder.  I do know the pedigree name of ‘Two’ and was told that they have since died from seizures. 

Case ‘Three’:  The seizure type behavior of ‘Three’ was told to me by the owner, I do not know if the breeder was informed.  ‘Three’ is currently under observation to see if the seizure type behavior increases or worsens over time, the owner has agreed to keep me informed of any further developments.

Case ‘Four’: Seizure information about ‘Four’ was mentioned by the owner during a social media discussion, the owner said the seizures were not caused by epilepsy. I contacted the owner to discuss the seizure event, but this owner would not tell me anything more as they felt I would not listen to them because of the direction the social media discussion had taken.  They could not be more mistaken, I listen carefully to every owner or breeder that has/had seizure occurrence in their Mudi.  Not all seizures are caused by epilepsy, there are other causes of seizures, I am well aware of that.  I hope that this owner will decide to talk to me eventually, because I am interested, and I do care about them and their Mudi.

Case ‘Five’: This case was reported publicly by the owner.  However, I was told about this case by others in the Mudi community.  I contacted the owner and they sent me the veterinary documents confirming the diagnosis.

Case ‘Six’: The owner wrote about ‘Six’s’ seizures on social media hoping ‘Six’ would survive the latest cluster episode as their seizures were not responding to pharmaceutical control, and the owner asked family and friends to keep them in their thoughts and prayers as they fought to save ‘Six’. Someone also added a note about their seizure activity to a public website. This was not ‘Six’s’ first cluster seizure event, and as much as we all hope it will be their last, the harsh reality of this very serious type of epilepsy – clusters, is not optimistic.  The owner did contact ‘Six’s’ breeder while treatment in the veterinary clinic was underway, to inform them of the severity of this second seizure event, which came 5 months after the first.  The breeder was sympathetic to ‘Six’s’ current state but said no more and made no mention to the owner of any previous health issue or injury concern ‘Six’ may have had. The owner has since been told that before they bought ‘Six’, ‘Six’ had a serious head injury and that was the cause of the seizures.  If that is true, then the breeder sold ‘Six’ to an owner knowing the dog had suffered a serious head injury without informing the new owner of this before purchase. If in fact head trauma did occur, then the breeder should have a vet report showing the treatment given (minimally a skull x-ray and office consultation exam receipt) which a serious enough to cause brain damage injury, would surely have required.  There are very expensive veterinary care bills ‘Six’ is building up that the owner had no idea they might face if indeed ‘Six’ did have prior head trauma. I have very detailed veterinary documents for ‘Six’ and the diagnosis is idiopathic epilepsy.

One other interesting detail about ‘Six’ is tail length, ‘Six’ has a very short tail, was sold as NBT, the pedigree is marked NBT, there was only one white of each sex reported in the litter and both were told to be NBT, so there was no accidental misidentification, however ‘Six’s’ DNA test indicates ‘Six’ is long tail. Evidently ‘Six’ was docked and the owner was not informed of that either.  

Station For Family Connections

As mentioned above, I have pedigree data which shows the connections between relatives that many breeders are so eager to deny exists.

Also, four of these 6 cases have a 4 or more complete generation pedigree behind them, the other two cases have almost 3 complete generations, which means empty pedigree Mudis are not responsible for these 6 cases.

As I have covered family connections for those featured in previous epilepsy articles, I will mostly focus on the family connections of these 6 recently revealed occurrences of seizure activity.  However, I will include connections to other Mudis with seizures when they are relevant to these cases.  I will refer to the current cases by randomly given unisex theme names to allow discussion, while protecting anonymity.  Using word names will also help to alleviate confusion between numbers and names.  The connections listed here are not the only family connections found on the pedigrees, they are simply the closest and easiest to describe without a pedigree outline.

The assigned names for these 6 are as follows (alphabetically): Express, Freight, Local, Rails, Rapid, Tracks

Tracks and Rails: share one parent (= half siblings)

Express: has a parent that is a littermate to the shared parent of Tracks and Rails (meaning Express is directly related to Tracks and Rails by having littermate parents)

Freight and Rails: a parent of Freight is also a grandparent of Rails

Express: a parent of Express is a littermate of another parent that produced an epileptic (meaning two littermates each produced an epileptic and Express is one of them)

Local: has a littermate with epilepsy; one of the parents of Local also has an epileptic littermate; Local shares the same grandparent with an unconfirmed epileptic

Rapid: three of Rapids great-grandparents are also grandparents of other epileptics; one grandparent has a littermate that produced an epileptic

Other Notable Connections:

• One grandparent of three of these cases is also a parent of 1 epileptic and grandparent of 5 different epileptics = 6 closely connected cases from the same Mudi
• One grandparent is also grandparent to 3 other epileptics and is also great-grandparent to 3 in this current group of 6
• One of the 6 has the following grandparent connections: 3, 4, 4, 6 meaning that each of the 4 grandparents are connected to 3-6 different epileptics as either a parent or grandparent
• One of the 6 has a parent that is connected to 4 other epileptics as either a parent or grandparent
• One of the 6 has one parent that is connected to 2 cases and the other parent to 3 cases as parent, and their 4 grandparents are connected to between 3 and 6 cases each as parent or grandparent

The existence of close family connections is undeniable in these 6+ cases.  The close family connections are equally undeniable between the other Mudis affected with a seizure disorder as well.  Everyone is free to accept the evidence for inheritability of IE or not, but you are not free from the consequences of your choice. 

Station Without Benefits

In addition to the emotional and physical pain, and monetary cost of epilepsy already suffered by these Mudis and their families, not only on public forums and private channels, there is also the disclosure of epilepsy on a public database for various Mudis, on which several people other than the owners have taken it upon themselves to enter seizure occurrence information for Mudis they did not own or breed.  It is unlikely that diagnostic vet reports are in the possession of these individuals either, but even with official evidence, such sensitive information should never be entered by anyone other than the owner, this is a hard line that anyone with a moral compass would not cross.

The public database was promoted as being created for “so many benefits it will provide to the breed”, that is available to anyone that makes a free account, to add information to any Mudi in the database (you do not have to own or be the breeder of any Mudi to enter or change its’ data). The database is only available in English and a few other languages, however it does not translate well to Hungarian using standard online methods, which puts non-English speaking Hungarians at a severe disadvantage when it comes to seeing what may have been entered to their Mudis by others, as well as limiting their successful navigation and usage of the site.

The creator of this public database claimed that the provided record of changes history will offer transparency to counteract malicious intent.  Except that is clearly not the case, as anonymous individuals have made accounts through which they are adding and changing information on Mudis they do not own and they can too easily do this without reprisal as they hide behind faceless, nameless monikers.  Changes were made to one epileptic Mudis health issue data by an anonymous individual named ‘Mudi Lover’*²¹, how is this transparent and how is this a benefit to the Mudi breed?  And Mudi Lover is not a one off, there is also the very active data editor called nincsokaa*²², which translates to ‘there is no reason for (using my real name)’, which is a statement defying the need for transparency of who they actually are.  This flies in the face of the stated goal of transparency this database originally promoted among its “many benefits”. 

Next Stop Conflict

This public database has also failed to protect the owners that have reported health issues affecting their Mudi, from conflict with the breeder and others (like Mudi Lover) that do not want the health issue information made public on this database, or only want their version of the health issue given, and while the history does reflect the changes made, it becomes a made for TV drama to see who will finally make the last entry.  A professional public database should not be like this!  It should not be a contest of wills between the owner, breeder and other people as to which data should or should not be listed, or how exactly it should be stated.  It should not end with the owner finally giving up.  How long does it take for the main admins of the system or the creator of this database to stop this power play?  And who will they choose to have the last word?  How is this beneficial for the Mudi?  It certainly has not been of any benefit for the owners. 

Disputes with others should not be the allowed norm, or cost of being open and honest on a public database.  This would not happen if only owners could enter information to their own dogs profiles after proof has been submitted, which is how a professional database operates.

Anyone can verify these conflicts do exist by opening the “View Change History” link provided under the name of the dog being investigated on this public database.  Instructions on how to compare dated entries are given after you enter the history section, though it is not overly easy to select back and forth when there are many entries. 

Another missing benefit of this database, connected to this topic, is the inability to search for specific health conditions, such as epilepsy, meaning, if you do not know the name of the Mudi with the health condition you are looking for, there is practically no chance to find it.  It does not help that not all dogs from the same kennel are connected under the kennel name either, at least one case is affected by this lack of cross coverage, making it harder (to practically impossible) to find all the dogs created by one kennel, as it should be.  As one of the main purposes behind this database was to help owners and breeders find information they need to help them in their pursuit of buying and breeding, the unavailable search ability and cross reference gaps do not provide benefit, but also conflict with that goal as well.  Additionally, the high level of incorrect and incomplete data, as well as inclusion of non-existing dogs and duplications of dogs, also seriously affects the degree of accuracy anyone using this database should be acutely aware of.

This database has not even been online for a year and already it has failed several of its highest priority purposes for its creation and existence. I hope the creator and admins responsible for it will correct these failures, errors, and limitations promptly.

End of the Line

The ever increasing pile of failures, power plays and conflict of interest collisions, on both public and private channels, ultimately leads to derailment of breed benefit, while supporting the lack of responsibility in reporting cases, denial of existing and future cases and their clear hereditary connections, failure to administer proper breeding recommendations*²³ to avoid creating further epilepsy cases, plus the misuse of the available social media outlets that support these above-mentioned issues, and the use and misuse of improperly designed technical tools that cause more harm than good, all means the epilepsy express train will soon be stopping at everyone’s station.  When that happens, it’s going to be too late to switch tracks, the fate of the breed will be not be reversible as there won’t be any track left.  The puppy sales engine will hit the wall.  The careless will go and find another breed to ruin, while those that tried to stop the train till the very end, will be left to mourn the wreckage.

Final Stop?

In Hungary, there is a well known saying: 

A remény hal meg utoljára. (Hope dies last.) 

As one of the most concerned passengers still traveling on this runaway train, in mid-December 2023,  I wrote an information packed email to several renowned epilepsy specialist veterinarians, begging them for help with the Mudi breed.  I was informed that they will meet very soon to discuss my request.  I truly hope they will agree to help reduce the incidence of epilepsy, in whatever ways they can, because they are the Mudi breeds final hope. 

 

*1 References and Links:

*2 Incidence and Inheritance of Epilepsy in Dogs

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552344/

https://www.vin.com/apputil/content/defaultadv1.aspx?id=3861258&pid=11243&print=1#:~:text=Inherited%20forms%20of%20IE%20are,recessive%20or%20polygenic%20recessive%20inheritance.

*3 Brain Tumor

https://www.mspca.org/angell_services/its-not-always-a-tumor-when-to-suspect-a-brain-tumor-in-dogs-and-what-we-can-do-about-it/

https://hospital.cvm.ncsu.edu/services/small-animals/neurology/brain-tumors/

https://bvajournals.onlinelibrary.wiley.com/doi/abs/10.1136/vr.105647

*4 Brain Tumor Prognosis

https://www.northwestreferrals.co.uk/symptoms-of-brain-tumours-in-dogs/

https://www.petmd.com/dog/conditions/cancer/brain-tumors-dogs

*5 Breeds Prone to Brain Tumors

https://vcahospitals.com/know-your-pet/brain-tumors-in-dogs

https://www.petmd.com/dog/conditions/cancer/brain-tumors-dogs

*6 Brain Tumors Mostly Occur Beyond 5 Years of Age

https://vcahospitals.com/know-your-pet/brain-tumors-in-dogs

https://hospital.cvm.ncsu.edu/services/small-animals/neurology/brain-tumors/

https://www.petmd.com/dog/conditions/cancer/brain-tumors-dogs

*7 Brain Tumor Occurrence Rates

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856054/

https://www.petmd.com/dog/conditions/cancer/brain-tumors-dogs

*8 Canine Skull Thickness

https://www.atlanticcoastvet.com/site/blog-long-island-vet/2022/07/30/can-dogs-get-concussions#:~:text=Dogs%20may%20not%20get%20concussions,to%20be%20vigilant%20as%20owners.

*9 Concussion in Dogs

https://www.atlanticcoastvet.com/site/blog-long-island-vet/2022/07/30/can-dogs-get-concussions#:~:text=Dogs%20may%20not%20get%20concussions,to%20be%20vigilant%20as%20owners.

*10 Severe Head Trauma Evidence

https://veterinarypartner.vin.com/default.aspx?pid=19239&id=11544562

https://www.dvm360.com/view/journal-scan-are-dogs-with-head-trauma-more-likely-experience-seizures

*11 Severe Head Trauma Common Signs

https://bluepearlvet.com/pet-blog/brain-injury-in-pets/

https://veterinarypartner.vin.com/default.aspx?pid=19239&id=11544562

*12 Severe Head Trauma Incidence of Seizures

http://blog.vetbloom.com/neurology/head-trauma-in-vet-med/

https://onlinelibrary.wiley.com/doi/10.1111/epi.12071

https://www.dvm360.com/view/journal-scan-are-dogs-with-head-trauma-more-likely-experience-seizures

*13 Head Trauma Timeframe of Seizure Occurrence

https://onlinelibrary.wiley.com/doi/10.1111/epi.12071

*14 Head Trauma Permanent Damage or Death

https://bluepearlvet.com/pet-blog/brain-injury-in-pets/

*15 Walnut Tree Distribution

https://en.wikipedia.org/wiki/Juglans

*16 Flea/Tick Preventatives and Seizure Information 

https://www.fda.gov/animal-veterinary/animal-health-literacy/fact-sheet-pet-owners-and-veterinarians-about-potential-adverse-events-associated-isoxazoline-flea

https://www.avma.org/javma-news/2018-11-15/four-flea-tick-products-linked-seizures-ataxia

*17 Adverse Reaction Duration of Flea/Tick Treatment Symptoms

https://www.petmd.com/dog/conditions/poisoning/flea-and-tick-medicine-poisoning-dogs

https://www.medvet.com/know-flea-product-toxicity-dogs-cats/

*18/20 Foresto Collar and Flea Collar Safety

https://www.electric-collars.com/antiparasitic-collars-for-dogs/anti-tick-collar-foresto-38-cm-under-8kg

https://parasitesandvectors.biomedcentral.com/articles/10.1186/1756-3305-5-73

*19/20 Milprazon Ingredients and Safety

https://en.wikipedia.org/wiki/Milbemycin_oxime

https://en.wikipedia.org/wiki/Praziquantel

 

*21

*22

 

*23 PDF English: MEOE MMK Recommendations for breeders to suppress epilepsy occurring in the Mudi breed

https://drive.google.com/file/d/1BfpUMGUEh-oLQ9hilPNDZrb8z_z-89Ld/view?usp=sharing

*23 PDF Magyarul: MEOE MMK Ajánlás a mudiknál előforduló epilepszia visszaszorítására, tenyésztés szempontjából való kezelésére

https://drive.google.com/file/d/164ePCejS2bCI8YqJIGFH4kTqXStYrgOt/view?usp=sharing

More Faces of Epilepsy, 2023 Edition

 

(Ez a cikk magyarul megtalálható ezen a blogon - Az epilepszia újabb arcai) 

My responsibility to the Mudi is not something I take lightly, what is best or important for the breed must always come first.  I hope that everyone involved in the Mudi breed also feels this same way and will do whatever has to be done when it comes to the best interests of the breed, however hard it may be, whether you are a breeder or an owner.

Since my last post about the incidence of epilepsy in September 2020, 17 more cases of epilepsy have appeared, that’s a 33% increase in just 2 years (please click on the purple Mudi Epilepsy Awareness ribbon on the right side of this blog to read that article in English and Hungarian). 

Kora’s Destiny

I was contacted recently by an owner whose Mudi Kora had epilepsy.  They shared with me information about their Mudi, videos of her seizures, which are placed below, as well as the progression of the seizures and the final outcome for their Mudi girl.

Kora was sent to this owner from another owner who no longer wanted her, at 6 months of age.  Very soon after she arrived, she started to have full body/generalized (also known as grand mal) seizures.  She continued to have more seizures and have them more frequently.  She was on anti-seizure medication and also CBD oil, neither of which helped.  The seizures started to come daily until she had a seizure that would be her last, as it could not be stopped, and Kora’s life ended, at only 19 months of age, from idiopathic epilepsy.

Kora’s seizures started at a very young age, before she could had puppies of her own, but that is not always the case.  While most seizures from idiopathic epilepsy occur before 4 years of age, today many Mudis are being bred that have not even reached the age of 2.  This is incredibly irresponsible in a breed that is known to have epilepsy and every Mudi breeder is aware that epilepsy does occur, it has not been kept in deep secrecy since 2008. There is no justifiable reason to breed any Mudi before it reaches the age of two.

Relative Chaos

Kora’s father has produced at least 4 litters/18 puppies, born in 2019 and 2020 and is still available for breeding.  One of his puppies has already been bred twice, with 16 puppies being born, and will have a 3^rd litter in 2023. Besides Kora, he has another puppy that had a seizure in the spring of 2022. At least 6 puppies/grand-puppies have been exported to other countries.

Kora’s mother has at least 5 litters with 22 puppies already born, in 2018, 2019, 2020, 2021 and 2022, with a 6^th litter planned for 2023.  Four of her pups have already been bred at least 6 times, which produced 31 puppies.  At least 8 of these puppies have been exported from their country of birth and 2 of them have produced at least 17 puppies in their new country.

Additionally, Kora’s grandparents were also widely bred, with puppies placed in many countries around the world and 2 grandparents are still available for further breeding.

As for the other 3 Mudis in the photo montage above, they have not been bred either, but their parents have produced at least 72 puppies, with many being exported from their country of origin and used in breeding.  Littermates have also reproduced.

Considering the above reproduction rate from typical Mudi parents, it’s easy to see how epilepsy genes can be spread far and fast, around the world and the gene pool. 

The most important reason for informing Mudi breeders and owners about epileptics in the breed, is the need for knowing the family connection between the affected Mudi, their parents, littermates and offspring, to other Mudis living in many parts of the world.  Knowing where epilepsy occurs can help to prevent it from occurring again, by not breeding any direct relatives and not breeding any mates together that are considered high risk.

Minimal Statistics

Besides Kora, 16 more cases of epilepsy have been brought to my attention since September 2020.  Seven are confirmed and ten are highly suspected to have idiopathic epilepsy (IE).  There have also been 2 cases of paroxysmal dyskinesia (PD) which is either another form of epileptic seizure (such as focal and generalized) or a related neurological disorder.  The University of Minnesota is studying PD and they currently consider PD to be another form of IE seizure presentation.

Current Epilepsy Statistics as of January 2023 
(figures do not include 2 PD cases)

Total Epilepsy Cases:  73 (55 in 2020)

Confirmed: 46 (39 in 2020)

Highly Suspected: 27 (16 in 2020)

What has also changed since 2020 is the rate at which Mudis, particularly those used in breeding, are connected to more than just one epileptic, further indicating the epilepsy seen in the Mudi is genetic.  Also the incidence of PD is on pedigrees that also have considerable occurrence of epilepsy, indicating it is most likely not a separate disease, but another presentation form of seizure.

What is really concerning is how many epileptic Mudis we don’t know about, making these statistics above the bare minimum. 

Damage Control

We can continue to look the other way and ignore what is right in front of us and denied by many breeders still, and I can continue to record the cases of epilepsy and write new articles that show exponential occurrences, or every breeder can finally decide to follow the breeding strategy goals I covered in my seminars that will help to reduce the occurrence of epilepsy. You can be the cure, or you can be the cause, the choice is yours, but time is running out.  Time certainly was against these 4 Mudis, for 2 of them, time stopped completely.

Having a Mudi affected with epilepsy is hard enough, please don’t make it harder for these owners by contacting them or sharing their names.  If you have questions, please ask ME.

I asked for permission from each of these owners to use the name of their Mudi and provide a picture for this article, as well as permission to use the videos they sent me.

If you have a Mudi that is having seizures, you are welcome to share your Mudis information with me.  Information that would divulge the identity of the Mudi or owner is never shared without permission.  The information about your Mudis seizures helps me to help breeders produce litters with lower risk for epilepsy occurrence.  This is vitally important to the future of the Mudi breed and those who want a Mudi to share their life with.

For more information, to report epilepsy, or any health issue that has occurred in your Mudi, please email, in any language: MudiDirections at gmail.com

Meet the Fated Four

The 4 Mudis in the photo montage at the beginning of this post are:

1) ‘Kora’

Born: July, 2020, black female (COI: 4.1%)

Kora died in February 2022, during a seizure event at 19 months of age.  She started to have seizures at 6 months of age, which increased over time and were not able to be controlled with medication.

Warning! These videos may be disturbing to some viewers!

 

Kora 1

Kora 2

2) ‘Pásztor’

Born: August, 2019, black male (COI: 0%)

Pásztor is currently doing well on medication which keeps him mostly seizure free. He started to have seizures at 1 ½ years of age.

Warning! These videos may be disturbing to some viewers!

 

Pásztor 1

Pásztor 2

3) ‘Cifra’

Born: May, 2018, black merle female (COI: 5.4%)

Cifra is currently doing well on medication which keeps her mostly seizure free. Her first seizure appeared at 3 ½ years of age.

 

4) ‘Bögöly’

Born: October, 2014, black female (COI: 10.3%)

Bögöly died in 2022 during a seizure event at 8 years of age, she had seizures from at least 4 years of age when she was rehomed with her final owner. It is quite likely they started before 4 years of age, but it was not disclosed to her final owner by the previous owners.

Positive Fate

I wish I could say the future looked bright for the Mudi breed.  But with 90+ diseases being tracked that have occurred over these last two decades, and with several serious health issues occurring at disturbing rates, it’s just not possible to be positive about the Mudi breeds future.  I can’t change this bleak destiny alone, however we can all work together to change the grim fate that lies ahead to a better outcome.

I hope you will change your course to the healthier path forward for the Mudi breed, rather than remaining on the dead-end street it currently travels.  Make this a New Year’s resolution you will fulfill!

For Whom The Bell Tolls: Epilepsy in the Mudi

Magyarul - Blogbejegyzések Magyarul Blog Oldal

Mudi owners and breeders have struggled with several questions relating to canine epilepsy. How do we know the epilepsy we have in the Mudi is genetic epilepsy (versus a non-genetic cause)? How can we be sure genetic epilepsy is the cause of a Mudi’s seizures? Why are we so concerned with epilepsy? 

Epilepsy in the Mudi is a welfare issue. Hip dysplasia (HD) can also be a welfare issue in some breeds, however in the Mudi HD is usually only detected on x-rays, it is quite rare a Mudi shows any suffering from painful hip joints, while epilepsy is experienced because of true symptoms – seizures, and seizures occur more often than symptomatic HD. Therefore, epilepsy in the Mudi represents an acute problem that needs to be dealt with immediately. 

“Idiopathic Epilepsy (IE) is the most common chronic neurologic condition in dogs. It affects on average between .6 and .75% of the general canine population (that is 6 to 7 dogs per thousand). It is characterized by an enduring predisposition to epileptic seizures.” “Most canine epilepsy cases are diagnosed as ‘idiopathic’ (IE) in that there are no gross neuroanatomical or neuropathological abnormalities nor other relevant underlying diseases causing seizure activity, and a predominantly genetic or purely genetic origin is presumed.” (cited from *1,*3) Simply, if there is no other reason found (such as, brain injury caused by accident, poisoning, infectious disease, etc.) for a dog to be having seizures, then Idiopathic Epilepsy is the diagnosis and IE is caused by inherited genes. 

With the help of a new study (*1) just published in a well-known science journal (Applied Animal Behaviour Science), the criteria for identifying dogs with Idiopathic Epilepsy (IE) became available as a simple set of four yes/no questions, which we can also use to determine if a Mudi has IE. These questions were used to determine which dogs would be participants in the study (in this study, the researchers are also veterinarians and veterinary professors from Australia and the UK). Of course, you will also need the assistance of a veterinarian, but a vet should be the first person you contact when your Mudi shows seizure activity anyway. 

The questions they used to determine if the dogs they needed for the current study had IE were developed by the International Veterinary Epilepsy Task Force (*3). The four questions require only a yes or no answer. 

1) Has your dog ever had a seizure? 

2) Has your dog had at least two or more seizures that were at least 24 hours apart? 

3) Did your dog’s first seizure occur between the ages of 6 months and 6 years? 

4) Did your veterinarian perform blood and urine tests on the dog from which no identifiable cause for the seizures was found? 

If the answer is yes to all 4 of these questions, the dog is diagnosed as having Idiopathic Epilepsy. 

The majority of dogs which met the criteria for IE diagnosis in this study were purebred (70.3%). Purebred dogs are members of isolated populations which are useful for creating a similar outlook and purpose among all the individuals, but looks and purpose are not the only things shared in a closed gene pool, unwanted genes which cause health disorders are also circulated. This is why purebred dogs have so many inherited diseases. This doesn’t mean that mongrels do not also suffer from IE, they do, however according to an article about a study (*2) done in 2013, purebreds are significantly more likely to have epilepsy than mongrels (as well as nine other inherited diseases (*2)). 

The International Veterinary Epilepsy Task Force (*3) study also has this to say about the cause of IE: “Idiopathic epilepsy (suspected genetic epilepsy)—a genetic influence supported by a high breed prevalence (>2 %), genealogical analysis and/or familial accumulation of epileptic individuals (*6), (*7).” This means that a breed that has greater than 2% of the living population having seizures of unknown cause, tracing of family lineage to affected individuals, and/or there are numerous family ties between affected individuals, supports genetic influence as the cause of the seizures. 

From the 2015 Hülsmeyer study (*4), it was told that breeds which are small in number (population), have increased risk of hereditary disorders as well. 

Now that we have collected the evidence, it’s time for the Mudi breed statistics. 

I have more than 8000 Mudis in my pedigree database. 

I know of 28 confirmed epileptics and 11 suspect epileptics. 

The percentage rates for epilepsy in the general population apply to the current living population, not the total amount of Mudis that ever existed. I assume that 12 years is a realistic life expectancy for the average Mudi. I sorted out the Mudis that were born on/after 1/1/2006 and this was equal to 3800. 

Since 1/1/2006, 13 confirmed epileptics are known, with 9 suspected. 

According to the new study (*1), theoretically the following numbers of epileptics should occur in the existing Mudi population: 

.6 % of 3800 = 22.8 

.75 % of 3800 = 28.5 

This means on average, there should be about 22-29 epileptics occurring in the time period between 1/1/2006 to today. I know of a minimum 13, and as many as 22 if the suspected Mudis did indeed have IE. 

According to the International Veterinary Epilepsy Task Force study (*3), a high breed prevalence would be greater than 2% and/or would have pedigrees showing accumulation of affected individuals among family lines. 

2% would be 76 epileptic Mudis, which is significantly more than we currently know about. However, it is more important to note that my database does show an overwhelming familial connection between the 28 confirmed and 11 suspected epileptics we do know about. (In the case of familial-pedigree relationships, all epileptics apply, not just those occurring from 2006.) 

We must bear in mind that I certainly do not know about every epileptic Mudi that ever existed. Most were probably not disclosed to me, the breeder, or any other Mudi person. Some probably died before they had seizures or died before they were observed to be having seizures and others may have only had focal seizures which are called petite mal in humans, and easily missed, especially if they mainly occur when you are away from the dog or when you are sleeping. If we could get data from Hungarian veterinarians as to how many Mudis they have treated for IE in the last 10-15 years, it would be an even more accurate evaluation of the occurrence of IE in the Mudi, but this is currently not available data. 

You also need to recall that the most common neurological disease in dogs is idiopathic epilepsy, which means, the epilepsy that occurs in any breed is most likely to be a genetic type. The next point is that purebred dogs are more likely to have epilepsy than mongrels, the Mudi is a purebred dog. And dog breeds with small populations are more likely to have hereditary disorders, the Mudi is not a populous breed by any measure. 

While we may not be overwhelmed with epileptics at this point, the criteria and numbers are more than enough, along with the substantial familial connection, to conclude the epilepsy seen in these 28 confirmed Mudis is a genetic type of epilepsy. 

If we are to at least keep the occurrence of IE in the Mudi to a minimum level, rather than the high level it is in many other dog breeds, then it will take EVERY Mudi breeder and Mudi owner’s cooperation. 

We need to make a future where we don’t have to ask for whom the epilepsy bell tolls in the Mudi. There are things that can be done now to lower the occurrence of affected Mudis. Ask for an epilepsy risk score before you plan a mating. Choose mates that give a low epi risk score for the planned litter. Ask the breeder for the epilepsy risk score and COI, before you commit to buy a puppy. Report any Mudi that is having seizures which answer yes to all four of the above questions. 

The bell is tolling for thee, the time for epilepsy denial is over. 

(I would like to thank Dr. Péter Pongrácz and Michelle Murvai for their review and comments on this article, as well as the Hungarian translation was done by Dr. Péter Pongrácz.)

REFERENCES
(*1) Negative effects of epilepsy and antiepileptic drugs on the trainability of dogs with naturally occurring idiopathic epilepsy (Rowena M.A. Packer, Paul McGreevy, Amy Pergande, Holger Volk; Applied Animal Behaviour Science Volume 200, March 2018

(*2) Health of purebred vs mixed breed dogs: the actual data, 2015, The Institute of Canine Biology, Carol Beuchat PhD
http://www.instituteofcaninebiology.org/blog/health-of-purebred-vs-mixed-breed-dogs-the-data

(*3) Berendt, M., Farquhar, R. G., Mandigers, P. J., Pakozdy, A., Bhatti, S. F., De Risio, L., ... & Patterson, E. E. (2015). International veterinary epilepsy task force consensus report on epilepsy definition, classification and terminology in companion animals. BMC veterinary research, 11(1), 182.
https://bmcvetres.biomedcentral.com/articles/10.1186/s12917-015-0461-2

(*4) Hülsmeyer, V. I., Fischer, A., Mandigers, P. J., DeRisio, L., Berendt, M., Rusbridge, C., ... & Packer, R. M. (2015). International Veterinary Epilepsy Task Force’s current understanding of idiopathic epilepsy of genetic or suspected genetic origin in purebred dogs. BMC veterinary research, 11(1), 175.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552344/ (Hülsmeyer et al.)

(*5) Shorvon S. The concept of symptomatic epilepsy and the complexities of assigning cause in epilepsy. Epilepsy Behav. 2014;32C:1–8.
http://www.epilepsybehavior.com/article/S1525-5050(13)00656-2/fulltext

(*6) Shorvon stated in 2014 [5]: “It seems very likely that the genetic influences in idiopathic epilepsies probably are complex involving multiple genes and interactions between genes (epistatic) and between genes and the environment (epigenetic)”.

(*7) A list of breeds with a high epilepsy incidence or prevalence compared to the general background population can be found in Hülsmeyer et al. [26]. Please note that the epilepsy status within breeds may fluctuate over time and furthermore be influenced by differences between countries (e.g. due to preferences with respect to currently popular breeding lines).

Pedigree Analysis, Epilepsy and the Mudi

In these past few months I have been working on a very lengthy project.  It began with furthering my knowledge about Pedigree Analysis and then with the writing of an article which would explain as simply as possible what Pedigree Analysis is all about. The first article was then followed up with a statistical data collection and analysis report involving epilepsy in the Mudi. I asked two authorities on the subject to review my first and main article, Dr. Jerome Bell and CA Sharp.  Both kindly accepted and I incorporated their recommendations into the final draft of the article. I also asked Dr. Péter Pongrácz to review the articles and to advise and assist me with the statistical data procedures as that is one of his many areas of expertise.  I asked several Mudi owners to proof read the article as well as offer their insight (Michelle Murvai, Sharon Burkhardt, Betty Lessard).  And finally I asked Péter and Dörte Kolkmeyer to translate the articles to Hungarian and German as they are native speakers.  

I was very fortunate to have such willing and competent advisers and assistants to see me to the end of this part of the project.  This project and a COI project will also be shared with DogHeirs and the COI Source in the near future.  

All of those involved hope you will see the benefit of this work to the Mudi breed as well as to your own dogs and breeding plans.  

This Pedigree Analysis project initially consists of a 3 part series, more parts may be added later.  The first two parts are published below in English, but all 3 are downloadable by clicking on the name of each article below.  I have decided to publish on this blog the 2nd article first, the 1st article after it and the 3rd article will be placed to the PA tab on this blog shortly.  If you have any problems downloading the articles, email me and I will forward them to you.

I am currently working on the Mudi breed hip dysplasia statistics report and hope to publish that information very soon.

Deutsch
Pedigree Analyse – was ist das?.pdf
Epilepsie beim Mudi.pdf

Magyar
A pedigréanalízisről egyszerűen.pdf
Epilepszia a mudi fajtában.pdf

English
Demystifying Pedigree Analysis.pdf
Epilepsy in the Mudi.pdf

Epilepsy in the Mudi

Breed Statistics as of November 2011

Celeste R. Pongrácz

Genetic epilepsy has occurred in the Mudi breed since at least the 1980’s.  During the latter part of the last decade, epilepsy was not widespread and most people involved in the breed in that era did not share the information amongst themselves or with others.  We are reaping the fallout from that negligence today.  Since the autumn of 2008, it is impossible to ignore the fact that genetic epilepsy is the Mudi breeds number one health issue.

In order to attempt to lessen the occurrence of genetic epilepsy in the Mudi, it is first necessary to know what the breed average risk score is according to Pedigree Analysis.  With this risk factor we can plan better litters to bring the risk levels down and thereby reduce the occurrence of new epileptics.  If we do not reduce the breed average level significantly over the next few years, we will continue to see an exponential appearance of new epileptic Mudis. 

During the month of November 2011, 145 litters were scored using Pedigree Analysis.  The 5 generation pedigree of each litter was used to obtain the breed average epilepsy risk.  All Mudi litters born in 2008 and 2009 that were entered in my database were used to reach the score (145 litters: 73-2008; 72-2009).  These litters were born in 9 countries:  Hungary (115); Finland (10); Sweden (6); Germany (4); USA (3); Austria (2); Belgium (2); Czech Republic (2); Holland (1).

The epilepsy carrier and suspect carrier potential in my database are based on 18 known epileptics.  These 18 known epileptics were born between 1982 and 2008 as listed below:

1980’s – 4

1990’s – 2

2000 – 2

2002 – 2

2004 – 1

2005 – 1

2006 – 1

2007 – 3

2008 – 2

There are also 11 possible epileptics, born since 2002, that have not been confirmed yet, data from these 11 was not used to reach the average risk score.  There are also “Mudi’s” that have been placed via rescue groups in Hungary that have also been reported to be having seizures in their new homes, but these are also not included in this research.  It is essential to realize that epilepsy is not just found in the pedigreed Mudi population, but also in the not-pedigreed Mudis, Mudi crossbreeds, and the current and potential B/R registered Mudis.  There are many breeders in Hungary who have introducing B/R Mudis for breeding in this past year, however, eliminating the pedigree will not eliminate the risk, in fact it could do just the opposite.

The COI of the individual litters did not have a significant correlation to the highest risk scores.  The litters with the highest epilepsy risk scores were nearly equally divided above and below the recommended 12.5% maximum COI level (14 litters had an epilepsy risk score between 75 – 150; 8 had a COI higher than 12.5%).  The average COI score for all the litters born in 2008 was 9.6% and for 2009 it was 10.6%.  The high/low COI for 2008 was 22.6%/0.0%. The high/low COI for 2009 was 33.1%/0.0%.  (The COI calculation is run on the maximum number of known generations for each litter, for some litters this is as many as 25 gens, but the COI currently stabilizes around 10 gens.)

LITTER/YEAR SCORES:

Risk Score Definition:

Very Low = 0-12

Low = 13-24

Moderate = 25-49

High = 50-74

Very High = 75-99

Extreme = 100-200

2008 high/low score: 150/2 (2008 average: 45)

2009 high/low score: 109/3 (2009 average: 42)

Very High to Extreme Epilepsy Risk Score

- 6 litters scored 100 – 150

- 8 litters scored 75 - 99

High Epilepsy Risk Score

- 40 litters scored 50 - 74

54 litters, which are 37% of the litters born in 2008/2009, had a high to extreme epilepsy risk score!  That’s more than 1/3 of the litters born in 2 years!

Moderate Epilepsy Risk Score

- 58 litters scored 25 - 49 (58 litters = 40%)

Very Low/Low Epilepsy Risk Score

- 33 litters scored 2 - 24 (33 litters = 23%)

Every litter had a score above 0.  In other words, there was not one litter out of the 145 born that had no connection to epilepsy on their 5 generation pedigree.

The Mudi breed average, based on these 145 litters, is 44.  For comparison, other breed averages for epilepsy are: Australian Shepherd - 53; North American Shepherd (aka Miniature Australian Shepherd) - 40.

If you take into consideration that all of the epileptic Mudis that have occurred are not known, the actual Mudi breed average is probably higher than 44.

The breed average epilepsy risk scores for those countries that had 3 or more litters used in this study are:

Hungary - 43

Finland - 47

Sweden - 46

Germany - 60

USA - 47

4 of the 5 countries that produced the most litters in these 2 years, scored above the breed average!

SUMMARY

The facts are alarming:

1) The Mudi breed average epilepsy risk is 44.

2) The vast majority of litters (77%) are in the moderate to extreme risk score range.

3) There was not one litter without some risk.

4) Many of the countries producing Mudi litters are creating litters above the breed average.  

We need to alleviate the serious threat that epilepsy poses to the Mudi breeds future health and well being if the breed is to survive into the next decade.  Every litter needs to be planned with the utmost care in regard to the epilepsy risk factor associated with it. 

Avoiding epilepsy must become the priority of every Mudi breeder.

Future:  I plan to do this same research on the litters born in 2010 and 2011 in 2012.

(Copyright 2011, Pongrácz.  Permission: Translation and reprinting are allowed as long as the article is used in its entirety.  This article is best used in conjunction with the companion article “Demystifying Pedigree Analysis” written in November 2011 by Pongrácz.)

I would like to acknowledge and thank my reviewers and translators,

Michelle Murvai, Dr. Péter Pongrácz (Hungarian) and Dörte Kolkmeyer (German).  Their continued contribution to this research project is immeasurable!

_________________________________________________

Demystifying Pedigree Analysis

Celeste R. Pongrácz

Introduction

Basic Information

Cause and Effect (Why diseases occur and avoid control)

Breeding Options (Available choices)

Coming to Terms (A few words and abbreviations you need to know)

Data Collection (The how, where and disadvantages of data collecting)

Know Your Enemy (What traits to evaluate with PA)

Goals and Methods (What PA can do; Comparison of the two currently used methods)

Interpreting Scores the Sharp Way (More Sharp method score details)

COI Goals (What should be accomplished with the COI score)

Damage Control (Steps that can halt the loss of genetic diversity, the advancement of diseases and still allow the creation of a sound dog)

Take Home Summary (The important information to consider)

Links

References

Introduction

What is Pedigree Analysis?  Why do I need it?  Do I need to know genetics and scientific terminology to be able to understand it and use it?  So many questions and sometimes the answers given are not consistent.  When something goes over our heads we tend to avoid it. But, avoidance behavior can have serious consequences.

The purpose of this article is to explain what pedigree analysis is and what are the benefits of using it. I have written it mostly for the breed I am involved in, the Mudi, but this information can be applied to practically every breed.  Pedigree analysis (PA) is an evaluation of known relationship data, processed with mathematical formulas. It is a straight forward and simple process based on a standard set of rules.  It is also called relative risk assessment or relative risk pedigree analysis. To benefit from this process, you will need to familiarize yourself with a few terms which cannot be avoided, and you should know what a five generation pedigree looks like.

Some of the information I cover in this article does not pertain solely to PA, but in order to understand what can be accomplished with PA, it is necessary to know common breeding principles and their effects.

Basic Information

Genes carry the information to create every dog’s traits, characteristics, qualities and diseases.  However a dog is more than just the product of its genes, as interactions between genes and environmental agents, as well as learned behavior, also play an important part in the final composition of every dog. For PA purposes, the genes your dog inherits from its ancestors are what we are most interested in. Basically speaking, half of your dog’s genes are given from its mother and half from its father.  Every breed has certain “fixed” traits, that is, they have a typical size range, a typical ear habit (hanging, pricked, etc.), a typical color (white, black, brown, etc.), pattern range (merle, brindle, black & tan/bi-color, etc.), a typical purpose (companion, herding, hunting, etc.), typical fur type and so on.  Every breed has a basic trait list of what makes it one breed and not another.  The genes which make these basic traits become consistent because their variations are eliminated, that is, the genetic choices become invariable so the same features can be duplicated over and over.   

However, there are breed features which require several gene sets to appear, making them variable beyond the basic setting to some degree.   This is what breeders most often concentrate on changing, based on the current preference or need.   Knowing what traits the dogs listed on a pedigree had, or did not have, can be useful in this endeavor. 

PA is looking at a pedigree and trying to determine what kinds of specific genes the dogs on that pedigree may contribute to the dog the pedigree is for. In other words, Spot’s pedigree you now hold in your hands can show you the possible genes his ancestors may have given to him and the genes he may have to offer his pups.  These genes can be good, bad or neutral.  Every dog has a given set of genes and you cannot change them in the dog you have in front of you, only in the dogs that are yet unborn.  PA can be used to select one gene variant over another which can affect the conformation, performance ability and health traits of future pups.  

Responsible breeding requires maintaining a harmonized process of gene exchange and preservation. This involves persistent, broad based monitoring and balancing of the available gene set. Unfortunately breeding has mostly been done through a visible, results based screening and selection process, but this method does not provide the desired outcome consistently. This is why deleterious issues continue to emerge and increase within breeds and persistently uniform offspring cannot be achieved.

PA is not the perfect solution for breed health, performance or appearance problems. However, it can show you options to possibly keep or exchange one gene for another in Spot’s future litters.  It is far from an exact science to accomplish this.  If it were, we would not have the many problems dog breeds face today.  The keeping or exchanging of genes usually does not happen in one litter, it most often takes several generations after Spot to bring in what you want or to replace what you don’t.

Breeding healthy, temperamentally stable and performance able dogs today is proving to be difficult in spite of all the advancements that science and technology have made. The traditional breeding practices and choices that have been promoted for decades are not useful for avoiding diseases or promoting genetic diversity. Inbreeding is most often blamed for the loss of diversity in a breed, but it is the effect of artificial selection and popularity that are the main causes of genetic diversity loss.  The over use of popular sires and bitches, popular kennels, popular show and sport dogs and other “personal” selection criteria for or against certain dogs or lines, affects gene pool diversity more than high levels of inbreeding. The obsession with winning dog shows or performance events most often drives the need to breed only the best to the best, which means the best become the enemy of the rest!  Breeding generation after generation for extremes removes the majority of the population from breeding.  Breeding for constant “improvement” appears to have taken precedence over breeding for overall fitness.

Inbreeding and line breeding still have their place in today’s breed problems however.  These well known methods are used to ‘fix’ genetic traits into a line, but it is not a simple choice between ‘fixing’ only the traits you want from those you don’t. You cannot pick and choose genes as if they were on a restaurant menu. Inbreeding does not create desirable or undesirable genes, it simply gives a higher chance that a gene will be able to show its effect by making it more common.  This effect can be good, neutral or bad. You cannot get rid of a gene.  There is a specific place on the chromosome chain that must be filled with a gene.  You can only try to replace the gene with another allele or version of the gene or genes, but this is not always an even exchange.  While you may finally get that long desired gene allele combination, you may also get some other not so desirable genes as well. The main problem is that inbreeding and/or line breeding works well for genetic traits you can see, quantify or test for (such as fur type, sport ability, herding or hunting instinct), but it does not work well for traits that you cannot see, such as those that cause disease, or traits that require many genes to create.  Carriers for diseases usually show no outward signs, they only become known when they produce an affected puppy, and then it is too late.

All of these commonly used breeding practices, which are usually based on reducing the unwanted appearance or performance traits, add up to one major problem and that is an overall reduction of genetic diversity in the breed.  Yes, you could possibly get a breed where every dog is a carbon copy in look and performance, but you also inadvertently select against thousands of other genes and gene group variations you cannot see that are needed for health, longevity, naturally sustainable reproduction and more. One of the first signs of reduced genetic variation occurs when a breed starts to experience auto-immune diseases. The body’s immune system has an impact on many things such as the development of arthritis, the ability to fight off infection and ward off cancer. The gene group known as MHC (Major Histocompatibility Complex) plays an important role in the regulation of the body’s immune system.   These genes function most efficiently when the group is genetically diverse.  Take away their diversity and a long list of hard to spell disorders start to become serious problems in the breed, as well as lower resistance to infectious agents.

Once gene variations are gone from a breed’s currently available breeding stock, it is either impossible to bring them back or extreme measures such as outcrossing to another breed, have to be made.  The outcome of such an undertaking is not guaranteed to be successful or have acceptable results.

Traditions can be important, but if they make it impossible to breed healthy dogs, we need to change them. 

Breeders are not solely responsible for everything that happens to a breed.  All breed people, that is, owners and breeders alike, are accountable for what is happening in their breed. Every breed enthusiast needs to meet the responsibilities that being involved in a breed require.  Owning a purebred dog has responsibilities that go beyond providing a good home.

Cause and Effect

Late onset diseases that typically do not show symptoms until later in the dogs’ life (such as epilepsy, degenerative myelopathy, cataracts, etc.) result in genes being spread into the population every time the dog is bred before it shows symptoms. All offspring produced by an affected dog become sure carriers (if the disease is caused by a recessive gene or a polygenic group of genes) which can also then be bred and the chain of gene transmission goes on and on.

Diseases without conclusive tests to confirm them and lack of knowledge about inheritance create difficulties for anyone trying to identify which dogs carry the genes that make the trait and which don’t. 

Denial is also a major concern.  Everyone involved in a breed has to acknowledge there is a problem before anyone can begin to fix the problem. This can take years, and by then, the ‘fix’ is more difficult, if not impossible. 

Lack of honest and open communication among breeders and owners about health, temperament and performance issues prevents knowledge of the issues from being useful to further prevention. Fear of reprisal from other breed enthusiasts further prevents many people from sharing important information.

Even the most ethical and caring breeders can produce dogs with genetic diseases.  Some diseases are not clearly evident (mild epileptic seizures can be difficult to recognize, lameness can be attributed to many diseases or injury, etc.) and some owners do not report problems to the breeder that created their puppy.  Science has been able to help with DNA tests for some diseases, but DNA tests are not available for diseases that currently affect the Mudi.

Breeding Options

What are your choices?

1.  Keep on breeding with the same methods you have been using or were taught by other breeders.

2.  Wait for DNA tests to sort out the carriers.

3.  Pedigree analysis.

If breeding the way it has been done in these past decades was effective, then dogs in all breeds would be perfect breed examples and they would not have genetic defects and diseases commonly occurring amongst their members.

DNA tests are wonderful, but they take a very long time to develop and waiting for them can have serious consequences. If we stop breeding, the breed will most likely become extinct before the DNA tests we need are developed.  If we continue to breed without regard for health disorders, we face the risk of not having enough dogs left to continue the breed that are not carriers. You have to replace carriers with non-carriers in the breeding program or the number of carriers will increase. If DNA testing is not possible to replace carriers, then the reduction of affected individuals should become the goal. This can be achieved by setting risk priorities for every litter. Then use PA to choose less risky mates for those traits you wish to avoid, which requires accepting the risk for some lower risk traits to possibly appear instead (i.e. a high risk of epilepsy appearing is worse than a high risk of a bad bite).

PA is not perfect, but until there is a DNA test for everything, it is the best option we have available to eliminate or keep serious diseases to a minimum within the breeds’ population.

Coming to Terms 

Terms and abbreviations you need to know:

Gene = the basic unit of heredity

Allele = any one of two or more alternative forms of a gene

COI = coefficient of inbreeding (article link given below)

PA = pedigree analysis

Gen/gen = generation (as on a pedigree; typical pedigrees have at least 3 gens, 

     5 is what is required for PA; 10 gens minimum are used to calculate an 

     accurate COI in the Mudi, however the minimum number of gens can vary in 

     other breeds); 1^st generation contains a dogs parents, 2^nd generation has 

     the grandparents, 3^rd has the great grandparents, etc.)

A/Affected = a dog that has a confirmed disease

C/Carrier = a dog that has produced affected offspring (one or more) or is an 

     offspring of an affected dog

SC/Suspect Carrier = grandparent of an affected dog

IMPORTANT:  Labeling a dog as affected, carrier or suspect carrier must be done responsibly!  Diseases that do not have a verified inheritance mode (dominant, recessive, etc.) or diseases that do not have a DNA test available for carrier verification, cannot be handled indiscriminately.  All littermates to affected dogs are not sure carriers and to label them as such is incorrect.  To presume that only one grandparent is the source of transmission to the carrier parent is also erroneous without DNA testing to prove connections.  Labeling a dog as an affected that has not been reliably confirmed to be affected is irresponsible.  If basic standards of PA are not followed, then the consistency which allows you to compare pedigrees will not be achieved.  Inaccurate PA providers and the scores they give will unfortunately be given the same credit as those that provide accurate scores.   The result of this will be unreliability, and PA will be blamed as ineffective.  Be aware of the standards the PA/COI source you use follows, if you value accuracy and consistency!   In other words, not all people that provide PA and/or COI are doing so with standardized methods and accurate data, therefore the results they provide may be unreliable.

Data Collection

Data sources which supply the information used in calculating PA scores:

·       Canine health databanks and registries (OFA, CERF, CHIC, etc.)

·       Kennel Club databases (Finnish and Swedish Kennel Clubs, etc.)

·      Voluntary submission from breeders and owners, often supplied under strict confidentiality agreement

Disadvantages of these data sources:

·       Information has to be continually searched for

·       Some health databanks do not publish failed results

·       Most kennel clubs do not release health information

·       Not all breeders keep records

·       Not all owners report health problems to the breeder of their dog

·       Not all breeders and owners openly share health information with others

Data Disadvantages and PA:

· Lack of information, it is not possible for a database to include every occurrence of a given trait due to the heavy reliance on the voluntary supply of info, therefore the risk scores provided may be understated or lower than is actually the case.

·    Parentage on pedigrees is not always accurate.

· Some breeds, such as the Mudi, allow dogs without pedigreed parents or known parentage, to be pedigreed and used in breeding. This leaves no information trail of family traits; these dogs can either be ‘new blood’ or ‘recycled castoffs’ (which are dogs that had pedigreed parents, but were not given a pedigree).

·    PA scores are subject to change as time passes and new info is received about trait occurrence, which means that PA needs to be repeated often (prior to planned breeding is usually recommended); each breed can have different recommendations.

·    Scores given by PA are not a guarantee that the trait is or is not carried by the dogs being analyzed; affected pups can still be produced.

·   PA can apply selection pressure against all relatives that are closely related to an affected or carrier, which has a negative side effect: choosing not to breed with close relatives can affect the gene pool negatively, because not allowing them to breed limits genetic diversity; however  allowing them to breed without knowing their carrier status can spread the genes further into the population (However, it is important to understand that any decision to withdraw a dog from breeding should not be made on the basis of PA results alone.  High PA scores, plus: poor health test results and/or DNA test results and/or unwanted structural or behavioral traits combined, might be a reason, but not PA scores alone because they are only an estimate of possible risk.).

How and where a PA provider chooses to keep all the data required is a personal decision. I use a computer program made specifically for this purpose.  Additionally, I have access to the software programs and knowledge needed to do the different PA methods, COI, etc.  I have been collecting data for my breed for more than 7 years.  The amount of data needed to do an accurate PA takes a lot of time and work to acquire.  The software program you choose needs to be adaptable for the needs of PA and you have to learn how to do PA from a qualified provider.

Know Your Enemy

Risk scores should be provided for the diseases and faults that are currently seen in each breed. It is up to the people involved in each breed to determine what those issues are.  Breed clubs, breeders and owners need to stay apprised of what is occurring in their breed and be aware of new problems that may arise. The sooner a possible problem is discovered, the easier it will be to deal with removing it, time is not on your side. Breeders and owners need to be encouraged to provide information to the source that provides PA for their breed.

Goals and Methods

Pedigree Analysis is an estimation of genetic risk in a family, also known as a relative risk assessment.  The main tool is the 5 generation pedigree of the dog or planned litter.  A pedigree is a diagram of a dog’s family that is used as a visual tool for documenting relationships, following and tracking appearance traits, disease presence, and other genetic characteristics commonly found among relatives.

The main goals of PA are:

·     To avoid producing dogs with serious health issues.

·  To increase or decrease the number of carriers of one or more traits in the population (can be traits for health, appearance, behavior, etc., however C.A. Sharp states that using her system for improving positive physical traits such as appearance and performance, is not effective in her breed; there are other systems that work well for this).

·  To plan litters that will have lower risk scores than the general population, this in turn should lower the carrier rate for the breed as a whole.

·    Conformation and performance breeders can use it to identify the dogs in the pedigree which have the traits they want to pass on such as appearance traits (fur, tail and head type), movement traits (such as side gait and style), sport capability, herding or hunting instinct, etc.  (Sharp states her method is not effective for this in her breed; there are other methods that can be used for this).

·    To determine bloodlines that are prominent.

· To study and determine if there was a past breeding strategy used (close inbreeding, line breeding, outcross.) (Sharp’s method is not used for this, other methods of analysis are required for this).

PA can also be used to:

·    Identify if there is a genetic condition in a family.

·   Aid in the diagnosis of a genetic illness.

·    Determine the mode of inheritance for a trait (a geneticist’s symbol pedigree works best for this if it is a simple inheritance trait, plus very detailed information is also required).

· Determine that a health issue is not an inherited disease (a geneticist’s symbol pedigree works best for this).

· Determine the possibility of an affected offspring appearing in a planned litter.

·   Help to identify which dogs are at risk for a genetic disorder.

Scoring System

The calculation to achieve the risk score should be based on sound research and knowledge. The methodology and mathematical equations need to be performed accurately by the provider according to a standard set of rules.  There are only two PA methods in use that I am currently aware of for disease traits in dogs and both appear to be capable of providing scores of relative risk for canine disease issues.  One method was developed by Dr. Jerold S. Bell, DVM and the other by C.A. Sharp and ASHGI.  There are other methods and types of PA, such as kinship and relationship coefficients, percentage of contribution (aka percentage of blood), and more.  While I can also perform these calculations, I mainly concentrate on the Sharp and Bell methods because disease prevention is my priority and particular interest.

Sharp/Bell PA method differences:

· Requirements: Sharp method has no specific requirements; Bell method requires for success and usefulness, a proven recessive mode of inheritance, confirmed diagnoses for the condition, verified pedigrees and the knowledge of all affected and carrier dogs.

·  The mode of inheritance of the disease: Sharp method covers all modes; Bell method requires the gene to be proven simple autosomal recessive or x-linked recessive.

·  Types of individuals used for calculation: Sharp method uses affecteds (has the disease), carriers (parents and offspring of affecteds) and suspect carriers which are all 4 grandparents (unless they are already designated as an affected or carrier which they would remain); Bell method uses affecteds (has the disease), carriers (parents and offspring of affecteds), non-affected full siblings of an affected, and full siblings to a carrier.

·  Risk differentiation: Sharp method does not differentiate between carrier or affected risk, one score is given for each trait; Bell method requires calculating carrier risk and affected risk separately, which gives a separate risk percentage for each.

·  The mathematical equation used to calculate risk: Sharp method scores are based on a modified percentage of ancestry calculation made with an Excel program, based on collected data of affecteds, carriers and suspect carriers from a 5 generation pedigree.  The Bell method uses a different mathematical equation than Sharp’s, and it is based on affecteds, carriers, and full siblings of affecteds and carriers from a 5 generation pedigree.

·  Risk score style: Sharp method uses a numerical and word index from 1-10 and low to high, along with an explanation of what the scores are equivalent to; Bell method uses percentages.

·   Selection pressure: Sharp method does not select against all close relatives to affecteds and carriers, close relatives are only included that have produced or become affected themselves, however all grandparents are assumed to be suspect carriers if they have no other designation as carrier or affected; Bell method selects against entire families as it selects not only against carriers (which is required), but his method also selects against possibly normal individuals by assessing risk (although it is lesser risk) to all non-affected full littermates of affecteds and carriers. In summary: Sharp highlights the risk of possibly normal grandparents and Bell by providing a risk factor to possibly normal full littermates of affecteds and carriers, highlights their possible risk. 

·   Identity: Sharp method does not provide to the PA recipient a pedigree of any type, name or carrier status of any dog involved in the score, therefore, individual kennels, lines, dogs, etc., cannot be selected against or for; Bell method can use public and private report types.

C.A. Sharp added the following note to this section when she reviewed this article:

“To be fair – Bell’s method is more accurate if you are dealing with a recessive trait.  It is generally applied only to a single disease within a breed.  What I’m doing covers a variety of traits with a variety of modes of inheritance.  It is “one size fits all” which, as with clothing, is convenient and repeatable, but not necessarily the best thing for every occasion.”

Sharp/Bell PA method similarities:

·     Both use 5 generations of parentage behind the dog/litter.

·     Both calculate each trait separately.

·  Both provide scores which are based on the given traits occurrence in the pedigree which are processed using a mathematical formula.

·    Both methods use only the closest relative with risk, that is, once a relative is found to be an affected, carrier (or suspect carrier in the Sharp method), the relatives behind that particular dog on the pedigree are no longer involved in the calculation; neither method adds up all the dogs on the pedigree that have a disease connection, they both only use the closest relatives and then go no further behind that one, they move on to the next relative down the pedigree, that is, only the most recent relative provides the objective risk category, you do not need the ancestors behind them to estimate transmitted risk.

·  Most scores given are a cumulative result of several relatives connected to the trait, this means that a high score is NOT usually the result of one or both parents being an affected or producer, but all the closest relatives that are on the pedigree being added together to make the resulting score.

· With both methods you can average the PA scores of the parents to arrive at an approximate score for the planned litter for any given trait.

·   Neither of the methods identifies carriers, just risk.

·   Both methods agree that PA can never clear a dog of being a carrier, if there is no known risk behind a dog in the pedigree, the relative risk of the dog is not zero, it means it is unknown.

A proper pedigree analysis should also include a COI and a risk score for each disease or fault that data is being kept for in the particular breed. Other information may also be included.

If no score is able to be given for a trait, a reason should be provided.  Reasons for not having a score can be that there is no known background of it occurring in the pedigree being analyzed or the dog or its’ parents were cleared by DNA testing.

Important Considerations: 

·     Scores given by the Sharp method are not a probability prediction.

·    The risk calculations will give you the relative risk of having a genetic trait in an individual dog or litter.

·  Relative risk analysis does not identify carriers, just risk, which means it gives risk factor estimation for a particular trait.

· The results provided by the Bell method calculation are statistical predictions and do not provide a certainty of outcome for any individual or litter.

·  To improve your chances of NOT producing either an affected or a carrier dog, you should choose a mate that offers the lowest risk factors.

·   Statistics and probabilities are not a guarantee and until we have a DNA test for a genetic condition there will always be some risk associated with any breeding.

Interpreting Scores the Sharp Way

I prefer and primarily use the Sharp method to do PA, but I can also use the Bell method.  I am more comfortable with the Sharp method and mainly use it because it is suitable to the traits in my breed.  The Sharp method can be used for any trait because it is not “mode of inheritance” dependent.  For this reason, I cover the Sharp method in more detail in this article.

The Sharp method does not distinguish between affected and carrier risk because without knowing the mode of inheritance, or in the case of polygenic inheritance or genetic predisposition, it is not possible to calculate those numbers individually.

According to the Sharp method, PA scores should ideally be no higher than1/4 the maximum score for each trait analyzed. The maximum score is 10 for any trait. In the best case scenario you would prefer to have scores of 1 or 2 for every trait, but in reality this may be very unlikely.  The goal to strive for is a score below the breed average for each trait.  However, according to C.A. Sharp, to have a realistic breed average for each trait, you need to have done at least 100 PA’s before you can start to see breed trait averages that have any meaning. (Depending on the PA method, the maximum score is 10-Sharp or 100-Bell.) These goals may not be achievable for some breeds.  Certain breed PA providers may be able to provide average scores for particular traits found in that breed acquired from doing many years of PA analyses.

A score over 1/4 of the maximum score is reason for concern.  The higher the score, the greater the level of concern becomes for that trait. Planned litters that have 1/2 the maximum score given for any serious disease should be avoided.

The best use of PA is to select mates that will lower the score of the higher scoring parent for an unwanted trait in the planned litter.  (Unlike with COI, you can average the PA scores of the parents to arrive at an approximate score for the planned litter for any given trait.)

Any dog that is given a score between 1/4 and 1/2 of the maximum score for a serious disease that occurs later in life (epilepsy, autoimmune disease, etc.), should be withheld from breeding until they are at least 4 years old so that it will be more likely that the dog is not an affected before being bred. 

If your breed provides breed averages for traits, and if a dog being analyzed exceeds the breed average, any litters planned with that dog should attempt to reduce the score to a score that is lower than the breed average as is possible.  C.A. Sharp notes that “In practice it is difficult to get more than a 1 point (10% of total) reduction in any single generation, especially where a disease is common and the average score is high.  As an example with epilepsy in Aussies, really low scoring dogs are very rare and what few I see are usually of obscure pedigree and not necessarily the best quality.  Low scores may be due as much to lack of information as anything else.  In practice most people have to settle for breeding high risk to moderate or even high risk to a lesser, but still high, risk mate.”  I hope the Mudi does not have to settle for this plan!

If there are multiple traits of concern with a particular dog, the higher risk traits should be prioritized based on their health impact.  Some traits have DNA tests available.   If a dog scores higher than 1/4 of the score, it is strongly recommended that the dog be tested before being bred.

COI Goals

Ideally the COI of a planned litter should be below 10%.  This may not be possible to achieve in all breeds or all litters.  If it is not possible, then the next solution is to produce a litter which will not exceed the average of the parents’ COI’s (example: sire-20% + dam-10% = 30% ÷ 2 = average for the litter is: 15%).  Please note, the actual COI for a litter cannot be calculated by averaging the COI of the parents, that is, you cannot take the 20% COI of the father and 10% COI of the mother and assume the litter will be the average of 15%.  COI calculation is a totally different mathematical process then PA calculation.

Damage Control

Besides PA, what else can be done to prevent the spread of disease causing genes, the production of affecteds, the reduction of gene pool diversity and still get a dog that is a nice, typical breed specimen, that is healthy and suited to its purpose?

·  Do not breed any dog until it is at least 3-4 years old, this will help to prevent breeding an affected dog and only breed them after they have passed all the recommended tests for health, temperament and purpose (such as herding and hunting instinct tests).

· Choose mates that can bring traits into your litter that you would like to have.

· Choose mates that correct your dog’s faults, but also compliment your dog’s good features.

·  Breeding ‘like to like’, without regard to pedigree, can also ‘fix’ traits the same as line breeding and/or inbreeding can; this is called assortative mating and it will emphasize or ‘fix’ traits just as inbreeding does, but without the harmful side effects of inbreeding.

· At least one or two pups from every litter in every kennel should be bred in order to maintain diversity, this is a tall order, but the meaning is that breeding a wider variety of dogs is key to maintaining diversity.  However, breeding other than healthy, typical, low risk specimens is not in the best interest of the breed; this recommendation needs to be cautiously applied.

· Uncharacteristic specimens should not be bred simply to maintain breed diversity.

·   By uniformly crossing all ‘lines’ within a breed, you eliminate the differences between them, which limits the diversity between individuals; maintaining healthy ‘lines’ or families within a breed, while occasionally crossing back and forth as a breeder sees fit to do, maintains diversity in a gene pool.  It is the different opinions of breeders as to what makes the ideal breed specimen, and the dogs they choose to breed with to create that ideal specimen, that maintains the diversity in a breed.   Forcing interbreeding among all breeders is counterproductive to maintaining diversity.   Breeding a wider selection of dogs from each litter produced in the breed is the best choice for maintaining diversity.  When a line develops a problem, it needs another line to go to for mate choices for carrier reduction; this is why crossing them all together is not recommended.

· The number of breeding offspring from high risk parents must be limited to avoid multiplying the defective gene in the breeding population.

·   Repeated breeding of known carriers to dogs in other ‘lines’ not thought to be carriers, in an attempt to reduce the frequency of the detrimental genes, is not an advisable method.  This only multiplies and spreads the gene further among the population.  If a dog is a known carrier or has a high risk of being a carrier through pedigree analysis, it should be retired from breeding and replaced with one or two of its offspring.  These offspring should only be used in a very limited number of carefully planned matings to dogs from low risk lines and these offspring should then be replaced with their offspring, with the goal of ‘losing’ the defective genes through successive generations.

·   If the majority of breeders plan matings with a carrier risk below the average of the breed, then the frequency of the defective gene will diminish in the population. This method has been proven to be successful in other breeds.

·   The most important method to manage complex inherited disorders (such as hip dysplasia and epilepsy) is to select for breadth of pedigree norms; that is, apparently normal individuals with apparently normal or mostly normal littermates have the greatest chance of carrying normal genes.  Normal individuals with affected littermates have a greater chance of carrying disease causing genes.  Normal parents who have a prevalence of normal littermates provide greater assurance of having normal puppies.

·    Inbreeding levels, breed wide, need to be reduced by eliminating the crossing of two closely related dogs to produce a litter, unless it is the only way to avoid producing a serious health issue or to prevent a bloodline from being lost.  COI calculation of every planned litter and breed wide monitoring is essential.   Keeping the COI in the majority of the litters produced under the breed average COI, will keep the breed average COI from rising.

·  Popular sire breeding should be eliminated in the breed and within kennels (all the bitches in the kennel are bred by the same 1 or 2 studs).

· Continual, repeated mating of the same two dogs to each other should be avoided as this also reduces genetic diversity.  Endless repetition of the same litter reduces available breeding combinations in the kennel as well as the breed.

·   Balance the number of sires and dams used in breeding throughout the breed and within every kennel.  Variation and equality of the sexes used in breeding is mandatory to maintain genetic diversity.  This means that as many males should be used in breeding as females, throughout the entire population.

·  Each litter which produced healthy, typical specimens should have at least 2 puppies used in further breeding to reduce genetic loss.   Half of the litter being bred would be ideal.  If only one puppy is bred from each litter, 50% of the genes are permanently lost.   If 2 pups are bred it is reduced to approximately 25% loss, etc.

·  Maintain a high average generation time for each litter produced.  In other words, the fewer the generations are that occur between the foundation stock and the current breeding stock, the better.   Genetic diversity is lost by breeding successively younger generations quickly (also known as turnover).

· Dogs (males and females) that have not reached maturity and/or have not produced a litter are unknown entities in terms of their quality and their quality as a producer.   Unproven dogs should always be crossed with older, proven mates for their first litter.  It is much easier to see what they produce when the qualities of the other parent are already known.

·  In the Mudi, it is especially important that dogs without known parents listed on their pedigree be mated for the first litter only with dogs that have known parents and have previously produced a litter.  If the resulting litter is not as good as other typical Mudi litters, further mating should be reconsidered.  At the very least, the litter should not be repeated and only another previously bred mate with known parents should be chosen.

·  Breed for litters/dogs that have balanced characteristics and avoid breeding for extremes in appearance or performance.   Breed to produce an overall balanced litter/dog that has health, vitality, temperament, performance ability, intelligence, structure and type in equal measures.

·  Monitor your litters for fitness levels.  Mating success, average litter size (for the Mudi it is 5-6 pups per litter, according to my database research), birth weight, newborn to 8 week old puppy viability, number of pups reaching adulthood (2 years of age), and length of life.  Look for declines in your litters and in the breed, which can indicate your line and/or the breed are experiencing inbreeding depression.

· Dogs that have less than good general health, cannot maintain reasonable condition or lack energy levels adequate for the breed, usually have inherent weaknesses that may be passed to their offspring.  These dogs should not be included in any breeding program. 

· Avoid using dogs that cannot breed and reproduce naturally or require repeated assistance with breeding or rearing their litter (inability to breed without repeated assistance, repeated use of AI, repeated C-sections, loss of maternal instinct, etc.)

· Males and females should not be bred more than once a year; two or more years between litters is preferred, that way health issues can be seen in the previous litter(s) before the dog is bred again.

· Try to prevent loss of original founder lines and increase those under represented.  Maintain as much of a balanced contribution as possible.

·  Breeding with populations located in other countries should be encouraged and supported.  The use of AI makes this possible.

·  Monitor and control the growth of the population.  Smooth, steady expansion from careful breeding that fulfills responsible owner demand is the best strategy for the breed.  Irregular growth patterns (overproduction followed by litter reduction) have a serious negative impact on a breeds genetic health and morale of those involved in it.

Take Home Summary

Some of the most important points you should keep in mind:

· PA can help to avoid or improve health, performance and appearance traits in your future litters or identify them in a puppy/dog you want to purchase.

·  PA done with any method cannot identify carriers or give a guarantee you will not have any serious health or other issue appear in your pups, they only give risk estimations for a trait.

· There are 2 methods of disease trait PA, only one is applicable to any trait.  The PA provider needs to follow the method rules, have the necessary database, and apply the correct math formulas to get consistency of comparison and accurate estimation scores.

· Breeding for anything less than all three of the equally important components (health, performance, appearance), that make a sound dog, will lead to further genetic variability loss and an increase in breed deficiencies and overall loss of fitness.

· Breeding practices that involve “personal” mate selection choices and line breeding/inbreeding will drive the loss of genetic variability forward as both are equally harmful and need to be avoided; assortative mating principles should be practiced instead.

· The additional steps in Damage Control are very important to improving the future for our breeds; these are not the usual recommendations, but ones that most people never thought about implementing in their breeding program or into a breed.

Breeding for sound dogs is not easy, but these recommendations should give you an idea of how and where to start.  If you would like more information about the PA services I provide, please go to the PA page tab on this blog.  Also, if you have any questions, please ask!

I would like to thank C.A. Sharp and ASHGI (Australian Shepherd Health and Genetics Institute) for their pioneering work in Pedigree Analysis and Dr. Jerome Bell, DVM, Clinical Associate Professor of Genetics at Tufts Cummings School of Veterinary Medicine, for his pedigree analysis work. 

I would also like to thank Dr. Péter Pongrácz, C.A. Sharp and Dr. Jerome Bell for their assistance and comments in writing this article and thanks to my reviewers/proof readers, Michelle Murvai, Betty Lessard and Sharon Burkhardt. 

I would also like to acknowledge and thank the translators: Dörte Kolkmeier (German) and Dr. Péter Pongrácz (Hungarian).

Links:

COI article on the Articles tab of this blog (coming soon)

ASHGI  http://www.ashgi.org/index.htm

References:

·   C.A. Sharp, various materials, seminar and personal communications

·   ASHGI resources found on their website (http://www.ashgi.org/)

·  The Ins and Outs of Pedigree Analysis, Genetic Diversity, and Genetic Disease Control, by Dr. Jerold S. Bell, D.V.M.

· Using Relative Risk Pedigree Analysis and Open Health Registries to Plan Matings, by Jerold S. Bell, DVM, Tufts Cummings School of Veterinary Medicine

·   A look at pedigree analysis and the closest common ancestor, by Jerold S Bell, DVM

·   Population Structure and Inbreeding from Pedigree Analysis of Purebred Dogs, Federico C. F. Calboli, Jeff Sampson, Neale Fretwell and David J. Balding

·   List of principles for 21st Century Dog Breeding, J. Jeffrey Bragg

·  Determining whether risk for sebaceous adenitis of Standard Poodles is associated with a specific DLA class II genotype; Principal Investigator: Niels C. Pedersen, Center for Companion Animal Health, UC Davis School of Veterinary Medicine