It is important to understand that the genetic research requires careful co-ordination if we are to make useful progress. Involving a wide range of individuals without an agreed plan is unlikely to be efficient in producing results and is most likely to create competition and confusion among the research community. Hence the request that these things should be routed through me as Breed Health Co-ordinator.Current position
This condition was first recognised in mainland Europe and America. It is likely the close breeding of a limited number of British lines brought this condition to the fore. Once discovered abroad the condition started to be reported in the UK. At the outset it was argued to be a gastric or muscle cramp but we have now come to accept the neurological origins of CECS. It is highly likely this condition has been present in the breed for a very long time but became increasingly prevalent in closely bred lines developed in the 1980s.
Neurological seizures have a prevalence of around 4-5% in borders. This is confirmed by our own breed survey in the UK and the breed surveys carried out by the Kennel Club in 2000 and 2015. Seizures are reported in dogs from around 4-5 years of age. Deaths linked to seizures are reported across a broad age range from 5 through to 15 years with a median age in excess of 10 years. CECS was reported specifically on the 2015 KC survey at a prevalence rate of 1.6%.
One of the challenges in dealing with CECS has been the development of specific diagnostic advice and the situation remains that there is no reliable confirmatory diagnostic test. We are therefore relying upon expert diagnosis based on symptomology alone. Typically CECS is characterised by abnormal behaviour (anxiousness, distracted attitude, lip licking) leading to a seizure type episode where the dog appears to remain conscious of its surroundings. The seizure appears in many cases to be associated with muscle spasm, loss of balance and occasionally gastric noise and probably discomfort. Once recovered dogs appear entirely normal.
These symptoms have been recorded and various video clips are available on-line. There is considered to be some similarity between CECS and Scottie Cramp and other similar cramping syndromes in a number of other terrier breeds.
A genetic predisposition has been conjectured for some time but despite various international teams promising 'progress soon' - in fact nothing has been forthcoming. This is quite possibly because of a lack of any co-ordinated effort between the various research groups and the lack of reliable diagnosis. This is reflected by the low number of scientific publications on this specific condition.
In the interim, further work is planned to investigate a correlation with diet related factors (gluten sensitivity) which may also aid the search for a diagnostic test and identification of genetic mutations. However given the range of non-specific symptoms and the disorganised way in which many dogs have been diagnosed as suffering from CECS there is every possibility that we are dealing with a number of mutations rather than single gene defect. The prospect of finding a suitable gene test remains an ambitious end point which will be difficult to achieve without carefully co-ordinated research.Shaking Puppy Syndrome
SPS has been recently reported but even less is published on this condition in Border Terriers. It is a recognised condition in the Weimaraner breed where it is linked to a lack of myelin around nerve pathways. Puppies tend to improve as they mature. This is related to a known gene mutation in Weimaraners and a test exists to identify affected, carriers and clear dogs.
On-line videos suggest the uncoordinated tremors in Weimaraners is similar to that seen in Border Terriers as puppies but the Borders appear to be older. There is speculation that this is the same problem as CECS but this is as yet unconfirmed. In my view we would be very fortunate to find this syndrome has the same genetic basis as CECS as a single solution would resolve both conditions.
Regrettably this condition remains as a discussion on social media and has not been reported in any detail to me as Breed Health Co-ordinator and so no estimates of prevalence can be made.Comment
If the breed wishes to make progress with inherited conditions it is important we develop the discipline to report emerging conditions to the Breed Health Co-ordinator. The system for doing this has been in place for at least 25 years. Furthermore it is important to realise that mutations are a fact of life and pedigree breeding has a tendency to amplify the emergence of autosomal recessive conditions, yet rapid action can limit this if the gene mutation can be identified. Complex inheritance is more difficult to over-come and it is possible this is the case with CECS.
Central reporting is the only way forward unless we are to degenerate into a 'blame culture' approach which is entirely destructive and rarely produces the best result.
I will state for the record that the system of reporting we currently have in place is confidential and effective but it relies on owners to use it and requires the breed to promote its value.
Prof Steve Dean BVetMed, MRCVS, DVR
Border Terrier Breed Health Coordinator
Various reports on social media have raised the profile of two neurological problems in the Border Terrier. What follows are comments to aid those who may either have a dog with one of these problems or may be worried about the future health of the breed. If you wish to help find solutions to either of these issues then it would be best to work through the Breed Clubs and in particular myself as Breed Health Co-ordinator as it is important we speak to the research community and veterinary profession through one channel. Fund raising is going on but at this time please be aware this is not with the sanction of any breed club. Funding is frankly not the issue at this moment in time.Current Research
As Breed Health Co-ordinator I discussed the CECS problem with two groups. A major step forward has been achieved in searching for the genetic markers for CECS by the Breed Clubs' supporting the sequencing of the Border Terrier genome at the AHT. This alongside genome sequencing for around 75 other breeds will provide a useful platform for locating mutations related to neurological function. However this is a step forward but not yet a solution. We will need to agree the top three conditions in our breed and this is in progress. Once this work is completed we can expect progress towards identifying any genetic mutations of health significance.
There are four steps towards good research into inherited illnesses.
1. Accurate diagnosis of an affected dog's condition. This is best achieved in the first instance by seeking the opinion of a suitable qualified specialist. In the case of CECS and SPS this would be a recognised neurologist.
2. Report the diagnosis to the breed health co-ordinator. Health survey forms are available on the various Club websites and completion of one of these forms along with full information about your dog's condition should be forwarded to me (firstname.lastname@example.org).
3. Establish a single route to the research community. Using the breed clubs' Breed Health Co-ordinator is the recommended method for achieving the buy in of the research and veterinary community. It also keeps the breed engaged as a whole.
4. Sample collection from individual dogs is an important part of the process at a later stage. We will use the AHT for this as they are the KC's centre for genetic research. Further information will follow when and how these samples should be collected and forwarded.