Even though most of today's Border Collies don't work stock they are still very fit and active dogs. They can channel their energy and intelligence into many other activities including obedience, agility, tracking, showing and being an ever-so-active pet and member of the family.
Any breed of dog, including the Border Collie, will suffer occasionally from illnesses and diseases that affect all breeds, but there are a few diseases of which Border Collie owners and breeders should be aware, and then manage, to prevent them from becoming an ever-increasing problem. If owners and breeders address these issues and share information it can only help in keeping the Border Collie the wonderful dog that we know today. The following information is only a summary of the details available for each of the diseases mentioned and some reasons as to why it is necessary to be aware that such problems exist within our chosen breed.
List of hereditary diseases:
- Ceroid Lipofuscinosis (CL)
- Collie Eye Anomaly & Progressive Retinal Atrophy (CEA, PRA)
- Hip and Elbow Dysplasia (HD, ED)
- Osteochondritis Dissecans (OCD)
- Trapped Neutrophil Syndrome (TNS)
- Colour Dilution Alopecia (CDA)
Ceroid Lipofuscinosis (CL)
CL is a disease that affects the cells of the body, and in particular the nerve cells. CL is not contagious but it is inherited by a simple recessive gene in the same way that coat colour is inherited. The disease will only manifest itself in dogs which have inherited the recessive gene from both parents. Other offspring of a litter containing an affected dog can either be carriers or clear.
CL is characterised by the accumulation of ceroid lipofuscin, a waxlike lipid waste product of cell metabolism. This substance accumulates in the tissue cells of the body. In the brain there is limited room for storage of waste products and, as an estimate, at somewhere between 18 and 22 months of age, sufficient waste product has accumulated to begin compressing and destroying healthy brain cells. At this time the dogs display changes in behaviour, deteriorate rapidly and are usually euthanased.
There have been approximately 36 clinically proven cases of CL in Australia since the first case was diagnosed in 1980. When compared with the number of puppies produced during this time, it can be seen that this disease is very rare in the breed. At this time there are around 30 published known carrier dogs. Carrier dogs can only be identified publicly when they have produced affected offspring or been DNA tested as a carrier and the owners have given permission for the details to be published.
Confirmation of the disease is performed by brain biopsy in affected dogs and since 2005, can be tested for via a DNA test. This DNA test is done on a sample of blood and will identify whether a dog is Clear of the disease, is a Carrier of the disease or Affected by the disease. Obviously the use of this test is to breed only Clear dogs to other Clear dogs and therefore rid our breed of this disease. Some Carriers may be bred by some breeders, if this is done to only DNA confirmed Clear dogs then there will be no new Affected dogs born, but there can be many more Carriers created. It is my opinion that with respect to CL, only Clear dogs should be kept in breeding programmes.
Prospective buyers of Border Collies should be aware of the need to check that their prospective breeder is DNA testing all breeding dogs for CL and not breeding known carriers together. Note that as more and more dogs are tested (and return Clear results) many dogs will not need to be tested due to having Clear parentage. Make sure you ask for copies of the DNA reports for all dogs that are claimed clear in the pedigree of your prospective pup so that YOU are SURE your pup will be Clear via parentage. A dog that is a Carrier of CL will not suffer any symptoms and will lead a normal life and would make a fine pet.
CL Carriers & Pedigree Information
Collie Eye Anomaly & Progressive Retinal Atrophy (CEA, PRA)
CEA refers to an inherited abnormality in the development of the retina, optic nerve and choroid. These are all structures at the back of the eye involved with vision. CEA is a multigenetic trait, is present at birth and does not change with age. Since 2005 there has been a DNA test available to screen for CEA in Border Collies. This test allows breeders to know whether a dog they intend to breed with is Clear of the disease, is a Carrier or is Affected. A Clear dog shows no sign of the disease and cannot pass the disease on to offspring, whereas a Carrier dog shows no outwards signs but can pass on the disease and an Affected dog will show outward signs of disease as well as passing it on to offspring.
It is my opinion that all dogs for breeding should be DNA tested for CEA and only Clear/Clear or Clear/Carrier matings are acceptable. When a Clear/Carrier mating is performed there is a 50% chance that each puppy will be a Carrier (but no puppys can be Affected). In this way, we can stop any affected pups from being bred immediately and eventually we can remove the Carriers too. Note that, as more and more dogs are tested, some dogs will be "clear by parentage" meaning that at some point in their pedigree one generation of dogs were all Clear and therefore there can be no further CEA in the lines. The breeder should keep copies of those dogs results to confirm this and be able to show them to prospective puppy buyers.
PRA is a genetic, inherited disease of the retina (the "film" in the camera), which occurs in both eyes simultaneously. The disease is nonpainful, and there is no cure for it. The eyes are genetically programmed to go blind. PRA occurs in most breeds of dogs and can occur in mixed breeds also. It is recessively inherited in most breeds like CEA, and therefore has the same disease conditions and breeding restraints.
Clinical signs vary from the dog first becoming night blind in the early stage of PRA (not able to see in low light surroundings) to the entire visual field in all light levels becoming affected, which is advanced PRA. The pupils are usually dilated, and owners often notice a "glow" and increased "eye shine" from the eyes. All dogs with PRA will eventually develop blindness from advanced PRA, and this time frame until the dog is blind varies considerably from dog to dog, but usually takes at least 6 months from the time of diagnosis, and can rarely take years until the dog is completely blind.
Currently there is no DNA test for PRA in Border Collies, but this and other minor eye problems can be detected by physical eye exams. I would strongly recommended that puppies 6 to 10 weeks are checked by a specialist eye vet (ophthalmologist) and then once every 12 months from then on if a breeding animal (CEA DNA testing only needs to occur once). Eye checking involves no pain. It is performed using eye drops that dilate the pupil so that the ophthalmologist can examine the eye.
When choosing your prospective puppy I would recommned that you ask to have copies of the CEA DNA results for both parents and a recent (within 12 months) physical eye exam result sheet (for PRA and other conditions). Also remember that a puppy that is a Carrier for CEA will not suffer any symptoms and will live a normal, happy, healthy life.
Hip and Elbow Dysplasia (HD, ED)
Hip dysplasia literally means an abnormality in the development of the hip joint. It is characterized by a shallow acetabulum (the "cup" of the hip joint) and changes in the shape of the femoral head (the "ball" of the hip joint). Hip dysplasia can exist with or without physical signs in the dog. When dogs exhibit physical signs of this problem they usually are lame on one or both rear limbs. Severe arthritis can develop as a result of the malformation of the hip joint and this results in pain as the disease progresses. Many young dogs exhibit pain during or shortly after the growth period, often before arthritic changes appear to be present. It is not unusual for this pain to appear to disappear for several years and then to return when arthritic changes become obvious.
Dogs with hip dysplasia appear to be born with normal hips and then to develop the disease later. This has led to a lot of speculation as to the contributing factors which may be involved with this disease. This is an inherited condition, but not all dogs with the genetic tendency will develop clinical signs and the degree of hip dysplasia which develops does not always seem to correlate well with expectations based on the parent's condition. Multiple genetic factors are involved and environmental factors also play a role in determining the degree of hip dysplasia. This means both the breeder and the buyer may contribute to this disease occuring in a particular dog.
At present, the strongest link to contributing factors other than genetic predisposition appears to be to rapid growth and weight gain and over-exercise. Hence why breeders really try to make it clear that pups should be kept lean while growing and not involved in forced exercise, especially jumping until joint growth is complete.
Elbow dysplasia is the term for an elbow joint that is malformed on xrays. The mechanism of the malformation is unclear but it may be due to differences in the growth rates of the three bones that make up the elbow joint, particularly the humerus and ulna. In mildly affected dogs the only consequence may be arthritis. In more severely affected dogs, osteochondritis dissecans (see below), fragmented medial coronoid processes and united anconeal processes can result from the stress in the joint. The photo to the left of a dog's elbow shows the three bones that make up the joint: radius, ulna and humerus. The humerus bone has been separated from the radius and the ulna bone in this photo to reveal the three problems within the joint. The red painted regions on the specimen denote the usual location of malformation.
Due to the number of possible complications, it is hard to make predictions about how elbow dysplasia will affect a dog. If it can be identified at a young age before changes are severe, surgical correction has a reasonably good success rate. Once severe changes set in, it is much harder to prevent subsequent arthritic changes. Most dogs with this condition eventually become lame and the lameness can be very severe in some dogs, even to the point of disuse of one leg or severe difficult getting up and walking even short distances.
If clinical signs of hip or elbow dysplasia occur in young dogs, such as lameness, difficulty standing or walking after getting up, decreased activity or a bunny-hop gait, it is imperitive you contact your breeder immediately and then both of you can work together with regards to proper diagnosis and if nessecary, treatment.
Unlike many other breeds the Border Collie does not usually show physical signs of HD/ED. Border Collies can appear normal and have good movement, but on examination by xray clearly show that they are affected by HD/ED to varying degrees. Border Collie breeders have been known to say that their lines are clear and that they have no problem with HD/ED but unless they have all their breeding stock xrayed and scored, this statement may not be true. If breeders have been scoring all breeding stock and offspring for many generations and the scores are low - for example total less then 5 for hips and total less than 2 for elbows - then they may consider that they have a reduced chance of producing a severely affected animal.
All breeders at a minium should xray all breeding stock and submit all films for scoring. The importance of submitting all xrays for scoring, no matter how bad they appear, is to get a true breed average. What has happened in the past is that xrays that definitely show a moderate to severe problem are not necessarily submitted for scoring and therefore the score is not included in the data. We therefore end up with a breed average that is not necessarily a true reflection of the degree to which Border Collies are affected by HD/ED. The more Border Collies that are xrayed and scored the better idea we have concerning this disease and the less likely it is that we will breed affected animals, and so improve the breed overall. As of January 2004 the Border Collie breed average was 7.8. When evaluating litters, I would recommend asking to see copies of both the sire and dams official hip and elbow scores, and ensure that both parents are below the breed average recorded on the sheet. Older dogs sold with scores not suitable for breeding are not nessecarily going to have problems, if you are offered a dog of this type spend a lot of time talking with the breeder to discuss the situation.
Osteochondritis Dissecans (OCD)
OCD is a degenerative disease involving the joint bone and cartilage. It is characterised by partial or complete detachment of a fragment of bone from the rest of the joint. Sometimes the cartilage flap becomes detached from its bed and falls into a pocket of the joint. These loose fragments can cause inflammation of the lining of the joint and cause pain. Occasionally a fragment of the OCD flap will migrate down tendons and cause inflammation of the tendon’s sheath.
While OCD in the hips and elbows will be picked up by HD/ED scoring, there is one other joint that is prone to this disease - the shoulders. About half of all dogs who are suffering from OCD will have it in both shoulders, although they will usually have a lameness on only one side. Sometimes the lameness will shift from one leg to the other. It is thought that OCD is caused by the interaction of a number of factors including a genetic predisposition as well as environmental conditions eg.over-supplementation, overly energentic exercise when a puppy.
Typically OCD affects large breed dogs, but Border Collies are not immune from it and the minor extra outlay to have the shoulders xrayed when doing the hips and elbows is well worthwhile in my opinion. Simply ask your prospective breeder if they check for OCD in their dogs and make your own deicsion as to whether you feel it is nessecary or not.
Above is a radiograph of a dog that has an OCD lesion of the head of the humerus. Take note of the dent in the surface of the bone (labeled OCD) - also note the wispy white line just above the dent in the humeral head which is the calcified OCD flap.
Trapped Neutrophil Syndrome (TNS)
TNS was recognised in Border Collies about 8 years ago in New Zealand and Australia and is becoming more apparent. Inheritance patterns and percentage of affected pups in litters indicate that TNS is inherited in a recessive manner (like CL) with both parents having to be carriers of the disease to produce an affected pup. But overall, very little is known about this disease.
Symptoms may be seen in puppies as young as 2 weeks or as old as 7 months of age. Affected puppies are usually smaller, have slower growth rates, and can appear to have a 'ferret like' head and a poor hair coat. Other symptoms of disease include lameness, inappetence, diarrhoea and a high temperature. Some puppies are not obviously different until they become ill which can mean a breeder may send home a seemingly healthy puppy that may get sick very soon after. This is distressing for both breeder and new owner. TNS is a disease which ultimately causes a deficiency of the immune system, so symptoms can vary between pups but ultimately, all affected animals will have to be euthanased on humane grounds.
Diagnosis of TNS currently requires three criteria. Firstly, the pups need to show clinical symptoms consistent with the TNS. Secondly, blood tests which confirm a low neutrophil count are suspicious of TNS but do not provide a diagnosis. Puppies will occasionally develop low neutrophil counts for other reasons, eg. viral or bacterial infections, and should not be condemned on this basis. The third criteriabone marrow biopsywill give accurate diagnosis. Unfortunately, this disease is quite rare and new and further research into its causes, diagnosis, management and its impact on the breed need to be done.
Prospective buyers of Border Collies should be aware of the need to check that their prospective breeder is DNA testing all breeding dogs for TNS and not breeding known carriers together. Note that as more and more dogs are tested (and return Clear results) many dogs will not need to be tested due to having Clear parentage. Make sure you ask for copies of the DNA reports for all dogs that are claimed clear in the pedigree of your prospective pup so that YOU are SURE your pup will be Clear via parentage. A dog that is a Carrier of TNS will not suffer any symptoms and will lead a normal life and would make a fine pet.
The photo below shows an unaffected pup (left) and a TNS affected pup (right) from the same litter at around 8 weeks old.
Colour Dilution Alopecia (CDA)
Alopecia (hair loss) related to dilute coat colour (Blue or Lilac in Border Collies) is a recognized condition in dogs called "Colour Dilution Alopecia". This condition develops in some, but not all dogs with the dilution gene. Affected dogs have a poor, patchy haircoat progressing to widespread permanent hair loss. At the cellular level, there are abnormalities of the hair follicles and uneven clumping of pigment (melanin) granules in the hair shafts in affected areas.
CDA is characterized by loss of hair from the dilutely pigmented areas (so any white or tan areas on your Border Collie will not be affected). Coats are normal at birth, and onset of hair loss usually begins between six months and three years of age. Hair loss usually begins along the spine and often spares the head, tail and limbs.
It has been suggested that richer coloured dogs are less likely to be affected, may be less severely affected or may start to lose hair later in life than lighter colored dogs. The hair loss may be total or partial and any remaining hairs are usually sparse, rough and easily broken or removed. The skin in the affected areas is usually scaly and may occasionally develop bacterial infections. Itching is usually absent, unless a bacterial infection has set in. An affected dogs skin is highly susceptible to sunburn or extreme cold, so should be kept inside as much as possible, but your dog's health is not otherwise affected.
Diagnosis of CDA requires first ruling out other causes of hair loss. Diagnostic tests should include fungal cultures, skin scrapings to check for parasitic mites, etc. CDA often closely resembles endocrine (hormone related) hair loss and the dog should be carefully examined for any other abnormalities, and tested for normal thyroid function. Presence of dilute pigment and a characteristic course of disease also aid in making the diagnosis. Microscopic examination of hairs and\or skin biopsies can be used to confirm the diagnosis. There is no cure for CDA. Treatment is limited to controlling the scaliness and any associated itching with various shampoos or topical treatments.
Since this condition is hereditary but little more is known about it's causes, Arktulu Border Collies will not be breeding specifically for Blue or Lilac coat colour, but puppys of this colour, may at times occur.
Below is a Blue Dobermann suffering from CDA, note the hairloss over most of the Blue coat areas.
