2013 Breed Health Report
Last year's annual health report focused on a two projects designed to try and characterise the signs and symptoms that are typical of dogs claimed to be suffering from Canine Epileptoid Cramping Syndrome (CECS). The study involved Dr Laurent Garosi, a veterinary neurology specialist working in the UK, and was recently published in the Journal of Small Animal Practice (JSAP) Vol 55 (2) Feb 2014. An interim report was summarised in last year's health report and the basic information derived from this report has not changed in this publication of the full paper. However, added detail raises a number of interesting points to note and the discussion by the authors is interesting. The completion of this study is described as a first step and this indicates we are still some distance from understanding this disease and what causes it.
To save readers the need to reference my last report, the key observations seen in dogs during an 'episode' are: difficulty walking, tremor, involuntary muscle spasms affecting the limbs, back, head and neck or abdomen. Grumbling bowel noises heard in just over a third of the dogs selected suggests a gastrointestinal involvement. This last point is interesting for this would involve the so called autonomic nervous system whereas all the other symptoms affect the somatic nervous system. This sounds very technical but, simply put, this means that both the voluntary nervous control of the musculature and the involuntary control of the systems like the bowel, heart rate and respiration are both affected by an episode of CECS. This is not that unusual as similar effects are seen in other neurological diseases such as epilepsy but it does tend to confirm that the primary source of these episodes lies in the brain.
The list of the principle signs of CECS is useful and should assist veterinary surgeons in reaching a diagnosis but the study also demonstrates that not all dogs suffered the complete set of primary symptoms. This of course may be because some dogs were used in the study were not suffering from CECS but that is not yet something we can be certain of. From the report the diagnostic signs would appear to be difficulty walking, tremor, and involuntary muscles spasms. Another key point is that dogs suffering this condition remain aware of their surroundings, thus offering a distinction between CECS and idiopathic epilepsy. Secondary symptoms such as 'air licking', grumbling bowel sounds, vomiting or diarrhoea (before or after an episode) are not sufficiently consistent to be diagnostic and in any case may occur with other many other illnesses. Thus when seen in isolation should not be taken as indicating CECS but in conjunction with the primary signs may offer further assurance on the diagnosis. Even with the results of this study the authors recognise that a risk of misdiagnosis still remains with the principle confusion likely to be with cases of epilepsy.
The authors speculate on the similarity between CECS and paroxysmal movement disorders in humans but this comparison is of limited value as there is as little known about the cause of these conditions in humans as there is in animals. Further discussion on the similarity between CECS and other breed related canine illnesses as seen in Cavaliers (Episodic Falling) and Scotties (Scottie Cramp) suggest this is not a novel condition but does offer some hope for a solution in due course. This is anecdotally supported by the fact that some of the early video footage of dogs suffering CECS episodes showed Jack Russell types and not Border Terriers. So it would appear this is a potential new area for further research and the fact that similar illnesses affect humans and other breeds of dog offers some hope it will be funded.
The original ambition of the authors of this paper was to consider if the underlying cause is a genetic mutation. A mutation has recently been found for episodic falling in Cavaliers so it is not impossible that a related genetic mutation might exist in Border Terriers. So the challenge is to find a genetic mutation and thus develop a gene test to identify dogs carrying the gene and thus offer the chance to eliminate this condition from the breed. This is a worthy ambition, however we will be very fortunate if this proves to be a simple or rapid process. Progress with CECS research has been hampered in the past by a listing of dogs on various websites with little critical evaluation of how the diagnosis was arrived at. As a result, current listings appear to lack the rigour to support genetic analysis without considerable effort to clean up the data. Perhaps this could be done using the results of this current published study.
Without any accurate diagnosis, prevalence of the condition in the breed can only be approximated and the approaches to pedigree analysis have so far failed to identify a mode of inheritance. The information this new study could allow those with cases recorded on databases to re-evaluate them for accuracy and combined with improved accuracy of future diagnosis further progress is a possibility. Work in Scandinavia and at the University of Missouri is claimed to be aimed at finding the genetic mutation but as yet there is no progress has been reported in the public domain. IN the short term it would make sense to collect blood samples from dogs that are confirmed as cases and store these for future genetic research but a first step would require a suitable project plan and it might be better to consider aligning such work with that in Scandinavia or Missouri rather than start yet another group working on the problem of CECS in Border Terriers.
Prof Steve Dean BVetMed MRCVS DVR
Breed Health Representative
To save readers the need to reference my last report, the key observations seen in dogs during an 'episode' are: difficulty walking, tremor, involuntary muscle spasms affecting the limbs, back, head and neck or abdomen. Grumbling bowel noises heard in just over a third of the dogs selected suggests a gastrointestinal involvement. This last point is interesting for this would involve the so called autonomic nervous system whereas all the other symptoms affect the somatic nervous system. This sounds very technical but, simply put, this means that both the voluntary nervous control of the musculature and the involuntary control of the systems like the bowel, heart rate and respiration are both affected by an episode of CECS. This is not that unusual as similar effects are seen in other neurological diseases such as epilepsy but it does tend to confirm that the primary source of these episodes lies in the brain.
The list of the principle signs of CECS is useful and should assist veterinary surgeons in reaching a diagnosis but the study also demonstrates that not all dogs suffered the complete set of primary symptoms. This of course may be because some dogs were used in the study were not suffering from CECS but that is not yet something we can be certain of. From the report the diagnostic signs would appear to be difficulty walking, tremor, and involuntary muscles spasms. Another key point is that dogs suffering this condition remain aware of their surroundings, thus offering a distinction between CECS and idiopathic epilepsy. Secondary symptoms such as 'air licking', grumbling bowel sounds, vomiting or diarrhoea (before or after an episode) are not sufficiently consistent to be diagnostic and in any case may occur with other many other illnesses. Thus when seen in isolation should not be taken as indicating CECS but in conjunction with the primary signs may offer further assurance on the diagnosis. Even with the results of this study the authors recognise that a risk of misdiagnosis still remains with the principle confusion likely to be with cases of epilepsy.
The authors speculate on the similarity between CECS and paroxysmal movement disorders in humans but this comparison is of limited value as there is as little known about the cause of these conditions in humans as there is in animals. Further discussion on the similarity between CECS and other breed related canine illnesses as seen in Cavaliers (Episodic Falling) and Scotties (Scottie Cramp) suggest this is not a novel condition but does offer some hope for a solution in due course. This is anecdotally supported by the fact that some of the early video footage of dogs suffering CECS episodes showed Jack Russell types and not Border Terriers. So it would appear this is a potential new area for further research and the fact that similar illnesses affect humans and other breeds of dog offers some hope it will be funded.
The original ambition of the authors of this paper was to consider if the underlying cause is a genetic mutation. A mutation has recently been found for episodic falling in Cavaliers so it is not impossible that a related genetic mutation might exist in Border Terriers. So the challenge is to find a genetic mutation and thus develop a gene test to identify dogs carrying the gene and thus offer the chance to eliminate this condition from the breed. This is a worthy ambition, however we will be very fortunate if this proves to be a simple or rapid process. Progress with CECS research has been hampered in the past by a listing of dogs on various websites with little critical evaluation of how the diagnosis was arrived at. As a result, current listings appear to lack the rigour to support genetic analysis without considerable effort to clean up the data. Perhaps this could be done using the results of this current published study.
Without any accurate diagnosis, prevalence of the condition in the breed can only be approximated and the approaches to pedigree analysis have so far failed to identify a mode of inheritance. The information this new study could allow those with cases recorded on databases to re-evaluate them for accuracy and combined with improved accuracy of future diagnosis further progress is a possibility. Work in Scandinavia and at the University of Missouri is claimed to be aimed at finding the genetic mutation but as yet there is no progress has been reported in the public domain. IN the short term it would make sense to collect blood samples from dogs that are confirmed as cases and store these for future genetic research but a first step would require a suitable project plan and it might be better to consider aligning such work with that in Scandinavia or Missouri rather than start yet another group working on the problem of CECS in Border Terriers.
Prof Steve Dean BVetMed MRCVS DVR
Breed Health Representative