If not for Murphy, we would not know that the progressive neurological disorder cerebellar abiotrophy (CA) exists among Scottish Terriers. When Debbie Smith brought her 12-week-old Scottie pup home eleven years ago, he appeared to be normal in every way. Then slowly, inexorably, he began exhibiting disturbing movement difficulties that indicated he was in trouble. The first of these occurred when, at the age of seven months, his legs seemed to lock up in the midst of a fierce struggle with a snow shovel. He soon recovered, only to experience a similar episode a few days later. Debbie did not know what ailed Murphy, but her vet thought he did, pronouncing Murphy's only problem luxating patellas. But the surgery performed to correct Murphy's slipping kneecaps did not, as promised, return him to normal. In fact, he seemed worse. His head developed a tremor, he needed help going up and down stairs, and when running he often slipped and fel1 - especially when attempting to make a turn. More troubled than ever, Debbie sought a proper diagnosis. A number of specialists told her that Murphy clearly had some neurological problem, but they did not know what it was, and they did not hold out much if any hope of addressing it, although they recommended that Debbie have an MRI test performed on Murphy's brain. By this point in his journey towards diagnosis, Murphy was six years old.
Stymied - and frightened (in addition to bobbing, Murphy's head began to sway from side to side, and he had lost the ability to navigate stairs) Debbie turned to the internet for help. There she happened upon a twenty-year-old study of a disorder called cerebellar ataxia (another name for cerebellar abiotrophy) in Gordon Setters. The symptoms Debbie read about--the result of premature loss of cells in the part of the brain responsible for coordinating movement·-seemed to match what she saw in Murphy. Vets had heard of a similar disease in Kerry Blue Terriers, but in that breed the neurological disorder progressed so rapidly and destroyed so much of the brain that affected dogs are normally euthanized before their first birthdays. Murphy's problems, while progressive, did not fit this description-and no one had ever heard of a Scottie with CA.
Around this same time, Debbie received a complimentary copy of the Scottie Scamper, the Canadian Scottish Terrier Club's quarterly, which included a piece written by Scottie health advocate Carole Fry Owen and reprinted from the STCA's Bagpiper. The article indicated that cerebellar ataxia had shown up in the STCA's 1995 health survey, which addressed the incidence of ataxia, or incoordination, in Scotties. Extrapolating from the survey results, Dr. George Padgett, the survey designer, "guesstimated" that 13% of the then extant Scottish terrier population carried the recessive gene responsible for ataxia, one of the primary symptoms of CA. The article also included a description of cerebellar ataxia taken from the Old English Sheepdog breed club publication, Old English Times. Debbie quickly contacted the OET editor, who in turn put her in touch with Dr. Jerold S. Bell, the veterinary geneticist from Tufts University who was researching CA for the Old English Sheepdog club. Dr. Bell told Debbie that although he had never seen a Scottie affected with this disease, the eminent veterinary neurologist Dr. Alexander de Lahunta, at Cornell University, had. After reviewing Murphy's history, a video Debbie had taken of him, and the results of his MRI-which indicated that Murphy's cerebellum was indeed abnormally small-in the year 2000, both doctors declared Murphy a victim of CA (a clinical diagnosis can be confirmed by examination of brain tissue post mortem).
Debbie had a diagnosis, but sadly, she had no cure. In subsequent years, Murphy grew progressively worse, until he was unable to walk or eat or drink or eliminate without assistance. Dr. Bell told Debbie that Murphy's was the worst case of cerebellar abiotrophy he had seen in any dog of any breed, except for Kerry Blues. But Debbie and her husband Bill adjusted, accommodating Murphy's disability, for example, by using a specially designed harness to support their Scottie so that he could still go outside and by bracing his head with their bodies when he ate and drank. Scottish Terriers affected with CA feel no pain, and despite their brain degeneration, they maintain full consciousness; as Debbie notes, "They are normal Scotties in their minds."
Breed Club Involvement
The year after Murphy was diagnosed with CA, Carol Fry Owen published an article titled "Ataxia in Scotties: Wobbly Dogs," in the Bagpiper, asking that owners of other wobbly Scotties contact her-and they did. Symptoms of CA, it seems, are not uncommon in Scotties, and many cases of what had been thought to be Scottie Cramp--which unlike CA is neither constant nor progressive-have proven to be CA. Debbie Smith theorizes that CA has probably been around as long as Cramp has been around, and as evidence for her theory points to this passage from Cindy Cooke's The New Scottish Terrier (NY, 1996):
The spread of Scottie Cramp is a good examp1e of how a defect establishes itself in the gene pool of a breed. The fol1owing explanation appeared in a letter from Norman Hankinson…
[We come to 1932. That year, at Somerset Hills, Jock McGowan showed a dog.... This dog, Albourne Wattadorg of Mine Brook… went Winners, Best of Winners, and was defeated for Best of Breed What made the event noteworthy was that Jock walked in, put the dog on the block, never moved it during Open and Winners, and repeated the performance for Best of Winners and Best of Breed .... (…This would explain how a dog could compete for four awards without moving one leg-and it also indicates why Scottie wins in the 1930s offer no indication of worth.) There were then, and probably still are, no secrets in the dog game, and it was already known, when Jock pulled this stunt, that the dog could not walk two feet without losing control of its hindquarters... Albourne Wattadorg, appearing in 1932, was the first example of the condition to come to our attention. By the mid-and-later 1930s, Heather Necessity breeding had been jammed into the breed to such an extent that Albourne's blood--far too much of it--was all over the place, and this is the only factor which, to my mind, would account for the wide and rapid geographical spread of the condition. (pp. 202~203)
As Debbie observes, a Scottie who cannot walk even a few steps without loss of control seems much more like a CA Scot than a Cramp Scot - especially with the benefit of hindsight. And consider this statement taken from long time Scottie breeders Dr. Vandra Huber and Michael Krowleski's "'McVan's Scottish Terriers" website:
Some researchers believe that Scottie Cramp is also linked to desirable traits because some of the best (in appearance) Scotties have in the past exhibited the trait in mild forms. As a result, they believe it may be difficult to eliminate the disorder from our Scots without changing the appearance and temperament of the dog we all love. Some researchers estimate that all lines carry Scottie cramp and that as much as 90% of all Scotties are carriers.
The above sounds hauntingly similar to an assessment of the status of CA in Scotties recently made by Dr. Bell: "[CA] is being diagnosed worldwide in the Scottish Terrier ... and has a wide pedigree base that docs not preclude any Scottish Terrier from being affected."
In 2001 the STCA retained Dr. Bell to screen possible affecteds for CA. It was only the second time the organization had hired a geneticist to perform research (the first occurred in 1995, when Dr. Padgett was engaged to carry out the STCA health survey). Owners can contact Dr. Bell to obtain clinical assessments of their wobbly Scotties and, if they arc breeders, obtain genetic counseling from him. All such consultation is carried out in confidence, a precaution that is understandable but nevertheless shortsighted, given the potential magnitude of the CA problem in our breed. Compare this approach with that taken by the Old English Sheepdog club, which published the details of a diagnosed case of CA, including a full pedigree, in the Old English Times, where the names of known CA carriers also appeared. With a disorder as serious and as potentially widespread as CA, such openness is laudable-and necessary. How else can a breeder know what she has in her own line, as well as what might be lurking in the pedigree of a potential stud she is considering mating to her prized brood bitch? The STCA is helping to fund research sponsored by the Canine Health Foundation intended to locate the gene marker for late onset CA in four breeds: the Gordon Setter, the Old English Sheepdog, the American Staffordshire Terrier, and the Scottish Terrier. Once the marker is found, it may be possible to develop a test to identify CA carriers. But by itself, even such a test will not stop the spread of CA, especially given the prospective magnitude of the problem. A test for von Willebrand's Disease has been available for nearly a decade now, and yet this always relatively unusual disease persists. And attempts to breed out one genetic disease without benefit of a full health picture of the breeding population can lead to the kind of decimation experienced by Basenjis when their breeders attempted to get rid of progressive retinal atrophy, only to shrink the Basenji gene pool to an unsupportable level. Only an open health registry for Scottish Terriers-by providing everyone, breeders and pet buyers alike, with complete health profiles to go along with those detailed pedigrees-will pave the way towards ridding our Scotties of heartbreaking diseases like CA, but thus far the STCA seems resistant to this idea.
What You Can Do
Dr. Bell's research into CA in the Scottish Terrier is ongoing, and if your Scottie exhibits ataxic symptoms that are constant rather than episodic and that seem to worsen over time, you can contact Dr. Bell (see the "Resources" section below) for help with diagnosis. Bear in mind that many CA Scots arc only mildly affected and can carry out most movements normally for most of their lives, but know that this disease, which was once thought to manifest in mature dogs, has now been identified in Scotties only a few months old. And if you do not have a good sense of what to look for, you can ask Debbie Smith to forward a DVD showing a number of affected Scotties exhibiting various degrees of disease progression (again, see the "Resources" section). One thing you should 110t do is accept a breeder's assurance that your wobbly Scottie "just has Cramp"; only a neurologist can accurately distinguish Cramp from CA.
You can also help the STCA Health Trust Fund finance its portion of the Canine Health Foundation CA research project. The STCA already has received $7,000 in contributions earmarked for this purpose, but more is needed. But if you do provide financial assistance, please at the same time urge the STCA to establish an open health registry as the best method of combating this and all other hereditary diseases that plague our breed-this proviso is the most important contribution you can make.
"Murphy" Coleco's Wild Thing 5/23/94-5/13/05
The information contained in this article should not be misconstrued as a substitute for personal and professional veterinary attention. Please contact your veterinarian to discuss any changes in your Scottie’s care.
Original Doc: Murphys Tale.doc
Cerebellar Abiotrophy (CA)
In June 2000, Dr. Jerold Bell, DVM, and Dr. Alexander de Lahunta, PhD., DVM, examined a videotape of Murphy, my Scottie, who suffered for years with an undiagnosed movement disorder that affected his ability to walk normally. After considering Murphy’s history, both doctors agreed he had clinical symptoms of Cerebellar Abiotrophy (CA), a rare, slow-to-progress neurological disease that causes loss of coordination. Having experience with this disorder and after finding other CA affected Scotties; these doctors realized CA was a newly described disorder affecting the breed. Prior to that time, it wasn’t yet established that this disease existed in Scotties so their discovery was quite astounding.
CA causes ataxia or the “inability to coordinate voluntary muscular movements.” Some Scottie owners might have encountered this disorder over the years, no one can be certain. In 1995, the STCA HTF breed survey indicated the incidence of ataxia in Scotties was one affected out of every 200 dogs. It was therefore established Scotties had ataxia, but no cause was determined. In an effort find more CA affected Scotties, Carole Fry Owen, a well-known health advocate for the breed, published the article “Ataxia in Scotties: Wobbly Dogs” which appeared in The Bagpiper, the Scottie Scamper and on the STCA website. Many owners of “wobbly” Scotties responded to that article and have since received a clinical diagnosis of CA in their dogs. Recently, in August 2001, two veterinarians from South Africa published the first scientific study on CA in the Scottish Terrier, confirming the disease affects the breed, however, before that report was even published, Dr. Bell, Dr. de Lahunta and the STCA HTF were already at work on the problem!
Symptoms of CA include failure to control the rate, range, and force of a movement, exaggerated limb responses, such as goose-stepping or hopping and delayed and exaggerated postural responses, such as under or overshooting a food bowl when attempting to eat. Limb movements are spastic, clumsy, faltering, and jerky. Often a broad-based stance is present and swaying of the hips may be seen while walking. Symptoms are usually noticed between six months to one year of age and beyond and can be subtle at first; often an owner only suspects their Scottie is clumsy.
CA can be difficult to diagnose. The relative mildness of symptoms and its slow-progression can cause some to mistake CA for Scottie Cramp. Most dogs with Cramp appear normal and only exhibit symptoms occasionally. Signs of uncoordination associated with CA are always present once symptoms develop. Some Scotties have Patella luxation (slipping-kneecaps), which can also complicate diagnosis but that is another unrelated condition affecting one or both hind legs.
History of CA Project
Dr. Bell is the Assistant Clinical Professor of Genetics at Tufts University School of Veterinary Medicine and is the national project administrator for numerous genetic disease control programs of purebred dogs. Once aware of CA in the Scottish Terrier, Dr. Bell explained the following: “As this disorder has not been “worked up” and reported in the breed, there are many owners, veterinarians, and neurologists out there that are not informed of its presence. An important first step and contribution to the breed is to document it”.
Dr. Bell contacted the STCA and submitted a proposal, offering to determine the genetic parameters of CA in the breed. In May 2001, less than one year after learning of CA in Scotties, the STCA HTF formally retained his services. In the short time Dr. Bell has been working on this project, he’s been able to confirm CA is hereditary in Scotties and caused by a defective autosomal recessive gene.
Autosomal recessive inheritance means both parents carry a defective gene that can be passed on to male or female offspring. If a dog inherits two copies of the defective gene, one from each parent, they will be affected. If only one copy is inherited a carrier is produced and if no defective gene is inherited, the dog remains clear. Because both parents of an affected dog are positively identified as carriers and repeat breedings would produce additional affected dogs, anyone having a Scottie diagnosed with CA should notify the breeder and owner of the sire who produced the dog.
Presently Dr. Bell is working to determine how widespread CA is the breed and his database grows with each Scottie diagnosed. He has made recommendations to the STCA HTF for collection and storage of blood samples from affected Scotties, and possibly their relatives, to insure DNA is available for future studies. Hopefully that will lead to the development of a test for carriers. Once a test is available, a breeder could determine if their dog carries the defective gene before they were bred.
Dr. Jerold Bell, DVM
What We Know So Far
In August 2002, Dr. Bell reported that 20 Scotties were diagnosed with CA. He had reports of additional dogs with symptoms that sounded like CA and was awaiting videotape or follow-up on those dogs. He’s indicated the defective gene responsible for CA is very old and widespread throughout the breed. At least 6 ancestral lines trace back 7 or 8 generations and come together to produce an affected dog. The Scotties from South Africa trace back to English ancestors common to American dogs. At this time Dr. Bell says there is no particular “hotspot” of risk and pedigree analysis is still premature right now. Eventually, that will become available by Dr. Bell once more information is learned about CA in Scotties.
The STCA HTF has retained Dr. Bell for an additional year, September 2002 to August 2003. Please see The Bagpiper and the STCA website for any additional updates.
I am absolutely in favor of an open data base for Cerebellar Abiotrophy (CA) and an open health registry for the Scottish Terrier. I implore Scottie owners and breeders to encourage the STCA to act as soon as possible on the open data base for CA.
CA has had a significant and ever lasting effect on my life. I watched my Scottie, who was the love of my life, slowly and insidiously lose the ability to stand on his own or even take one single step without falling to the ground. It was a long journey and one I will never, never forget. Throughout this journey, Murphy, a hero in my eyes, remained a happy, cheerful, and sweet, sweet boy who looked forward to the simplest things in life. He adored his treats, feeding time, and daily walks. More than anything, though, he loved to be loved and this was enough to keep him happy and give him something to look forward to each and every day of his life. I wish I could have given him more, but with no treatment available for CA, I gave all I could.
I'd like to tell you a little bit about Murphy. At first he only tripped occasionally and banged his chin, which was sometimes difficult to watch if his chin happened to hit cement! I'll never get out of my mind how he would react after this happened. He would hold very still, slowly lift his chin, clench his jaws tightly, and shiver. It was clearly obvious, even when he didn't bleed, that he was experiencing pain, and sadly, he didn't even know why this was happening. It was heartbreaking to witness, to say the least, but this was just the beginning of the very long journey Murphy had to face.
Next came the falls. He would be happily running along in the yard, chasing after my other Scotties at full speed, not a care in the world, oblivious to danger and suddenly when he attempted to make a slight turn, he would tumble to the ground, rolling over and over again until he came to a stop. He would lay there a moment, grass and twigs entwined in his beard, dazed and confused, with a curious look on his face. Slowly, he'd get back up, shake himself off and continue on his way. Each time this happened, he was all right physically, but it was becoming clear that he knew his body was refusing to cooperate and he was as mystified about this as I was.
As time went by, I became very concerned. Murphy began to hold his back legs further and further apart to aid in balance. Eventually he had to creep up stairs, using his chin as a "fifth foot" to stabilize his body when attempting to climb. When he tried to go down stairs, forget it. Since Scotties with CA have nothing wrong with their mind, Murphy would often run full blast out the door, after all the other Scotties, who incidentally, flew down the steps as if they weren't even there, and suddenly trip, his beautiful little body bouncing and banging on every step until he landed in a heap at the bottom.
Soon, of course, steps were off limits. Murphy had to be carried up and down all steps for the rest of his life.
In the house, he was able to maneuver well, as long as he remained on carpeting. However, if I wasn't watching him closely or if I turned my back without thinking and he decided to follow me into the kitchen, as soon as he hit the linoleum floor he would slip and slide as if on ice, especially if he was excited. His chin would hit the floor with a resounding thud, or his head would smack into one doorway, startling him so much that he would rapidly turn his head to avoid the pain and smack his head again into the opposite door jamb.
I would run to him, hold him close and tell him over and over again how sorry I was. I used to worry that Murphy might come to think it was I who was causing him to hit his head all the time ... how could he understand that it wasn't? How could he know that his own body was slowly losing the ability to regulate and control the smooth and even movements we all take for granted.
Eventually, he would overshoot all of his intended goals or he would land short of them. When he tried to eat, his nose would bounce and bob all around the bowl, making it very difficult to get a hold of the food. When he drank, his nose would miss the bowl or go in too deep, causing him to inhale water. He would snort and snuff and try desperately to get the water out of his nose. This was extremely upsetting for him.
Soon, of course, he required assistance to eat and drink. Murphy had to be supported and held "still," while eating and drinking for the rest of his life.
The time came when Murphy was falling more often than staying on his feet. He would take three steps and fall, struggle to get up, take two more steps and fall again. I could no longer stand to see him fight so hard to walk, so next came the harness. Initially, it helped a great deal but as time went on, he required more and more support to keep his balance. His vestibular system was involved so he had a lot of trouble with balance (this is an issue for any Scottie with CA, but Murphy's symptoms were more severe than most).
I decided to try a wheelchair for dogs to see if that would offer more support, but it didn't. In a wheelchair, dogs’ legs still have to move normally, but Murphy walked with all four legs spread wide apart. He couldn't and would never again be able to get his legs underneath his body to move in a normal manner. I even tried another wheelchair, made with additional thought for an ataxic dog, with input from a physical therapist, but that one failed to work as well. Eventually, I stumbled on a harness made by surgi-sox, which gave Murphy the support he needed and it worked well for the rest of his life; however, the strain on my arm to support his weight and keep him from falling actually caused a tear in my bicep muscle.
Still, I would do it all again in a heartbeat if I had to. I loved Murphy more than anything, despite all of his problems, but I will tell you this ... Murphy did not have the life I would have chosen for him. I wanted him to run and play like a normal dog, to enjoy pouncing on the snow shovel in the winter, and on rakes in the fall, fighting with them and biting them, which he loved to do when he was younger. Gee, I would have loved to see something as simple as him walking to the door on his own if a visitor came to see us. That wasn't to be for Murphy, but there is no reason on this earth to make other Scotties come into this life, and force them to struggle like Murphy did. Not when there is help available now.
I place blame on no one for the disorder Murphy had -- what we don't know, we cannot address, however, now we DO know about CA in the Scottish Terrier and there is no excuse whatsoever for anyone to ignore this disease any longer. Nor can more excuses be given, that fail to address the fact that breeders of these wonderful dogs have been given, in essence, a gift. Dr. Bell is willing to work with anyone to control this disease through pedigree analysis and he only requires an open data base for CA to make this work. It is the obligation of the Scottish Terrier Club of America to name affected dogs openly so he can do his job.
Help is available now to prevent more Scotties from being born with CA, and reduce the incidence of the mutated gene that is already widespread in the breed and can show up anywhere. If CA is ignored until a time when a genetic test exists, can anyone say with certainty that there will even be a Scottie free of the defective gene? If that happens, then what -- where do we go from there?
Not every Scottie with CA will get as bad as Murphy, and that is an absolute fact, however, we cannot know which dog will have mild to moderate symptoms and which dog will not. I suggest you ask any owner of a CA affected dog how they feel about watching their Scottie struggle every day, and how they feel about the limitations placed on these dogs due to this disease. It breaks the heart of any owner to watch the dog they love struggle with CA, no matter how mild or moderate the symptoms may be. Especially when that dog is a Scottie.
Original doc: open database.doc
Cerebellar Abiotrophy in the Scottish Terrier: STCA HTF Health Series No. 1
Cerebellar Abiotrophy in the Scottish Terrier Why is my Scottie so wobbly?
Cerebellar Abiotrophy (CA) is a neurological disease recently described in the Scottish Terrier. The term defines progressive, premature cell death in the cerebellum, an area of the brain that controls smooth, coordinated motor skills such as walking. If the cerebellum is damaged or begins to degenerate, fine tuned, precise movement is affected and smooth, voluntary movements become coarse, jerky and uncoordinated. Simply put, a dog affected with CA becomes ataxic, or wobbly.
What are the symptoms of CA?
Dogs affected with CA will slowly lose their well-defined motor skills and may exhibit subtle incoordination or clumsiness. An owner might observe an unsteady gait, a loose and wobbly rear end or noticeable rolling of the hips. Affected dogs can trip occasionally, bang their chin, fall down, or have trouble negotiating stairs. Eventually, they may begin using the nose to aid in balance and develop a wide-based stance in the rear legs. Irregularities in the front legs can also be present. The symptoms may become severe in one affected dog or remain relatively mild in another. There might be a faster rate of degeneration in one dog or very slow progression of the disease in another, with gradual changes taking place over several years.
Can CA be difficult to diagnose?
Yes. At this time there is no test to definitively diagnose CA in the living animal. A clinical diagnosis is made based on symptoms, but a final diagnosis can only be made with a post mortem exam. Symptoms of CA can be confused with those of Scottie Cramp, another genetic disorder known to exist in the breed. However, Cramp is an occasional condition, brought on by stress, excitement and/or exercise. Most of the time, a Scottie with Cramp will appear perfectly normal. By contrast, the incoordination associated with CA is always present once its been detected. Patellar luxation (slipping knee caps) can also occur in Scotties, but this is a separate, unrelated condition.
No. Affected dogs seem normal at birth. Occasionally symptoms are seen as early as 6 months of age, but many times they aren't noticed until the dog is one year or older.
Is CA a fatal disease?
No. Affected dogs can live out a full lifespan. The disease affects only balance and motor skills; the mind remains normal throughout the disease process.
What is the quality of life one can expect in a dog affected with CA?
Affected dogs can have a good quality of life. The disease is very slow to progress and the dog is able to play, enjoy life and participate in the lifestyle his/she is accustomed to for some time. It's been said that the disease is harder on the owner than it is on the dog. One has to keep in mind that CA is not painful. However, some Scotties with advanced CA may require assistance while walking, eating and drinking.
Is CA a hereditary disease?
Yes. CA is caused by a simple autosomal recessive gene. Affected dogs have 2 copies of the defective gene, one inherited from each parent. Therefore, both parents of an identified affected dog are known carriers of CA. Full siblings may be affected, they may be carriers or they may be clear. Males and females can be affected.
Is there any treatment available for CA?
No. Unfortunately, there is none available at this time. Some owners have tried vitamins, dietary supplements and acupuncture, hoping to delay the progression of the disease. There is no medical data supporting benefit from any of these treatments, but that is an issue to be discussed with a qualified veterinarian.
The STCA HTF is fully involved and is looking into CA in the Scottish Terrier. In 1995, the STCA HTF Breed Survey indicated that the incidence of ataxia in Scotties was a re- ported 13%. It is not possible to know how many of these cases were indeed CA, but the incidence of ataxia was relatively high. In 2001, the STCA HTF retained the services of Dr. Jerold Bell DVM, Assistant Professor of Genetics at Tufts University, to look into this matter. Dr. Bell is currently accepting information about any Scottie with possible neurological disease. He will assist owners by determining a diagnosis, which may or may not turn out to be CA. Once he collects enough data, Dr. Bell's goal is to determine how widespread CA is in the breed and to make recommendations on how to help lower the incidence of this disease. Eventually Dr. Bell, other doctors and research scientists hope to prevent CA from occurring in the future. One goal is to conduct DNA studies, which may one day provide a test for breeders to identify carriers in their lines. Dr Bell needs your help.
Dr. Jerold Bell asks that those who have a dog they suspect may have CA contact him. He will review a video and a pedigree (if available) of your Scottie to determine if he or she could be affected and offer a diagnosis. There is no charge for this service. Dr. Bell offers complete confidentiality.
Dr. Alexander de Lahunta, a renowned neurologist, is assisting Dr. Bell in this research. He has offered to do necropsies (post mortem exams) on deceased Scotties affected with CA to confirm the diagnosis at no cost. He will also accept and review a video of a Scottie suspected of having CA.
If you suspect you have a Scottie with CA and are uncertain what the symptoms might look like, a video is available showing multiple Scotties at different stages of the disease. Please make your request for a copy of this video to:
Copyright 2004 Scottish Terrier Club of America Health Trust Fund
Finally, if you are interested in a simple, one page flyer that you can show your veterinarian, the HTF has developed a flyer that is available in PDF format. Click Here to download this one page flyer.
Cerebellar Abiotrophy in the Scottie
"Copyright 2002, Debbie Smith"
Question: "My Scottie is wobbly and uncoordinated. I haven't been able to discover what is wrong. Do you have any ideas?"
Any questions about “wobbly” or uncoordinated Scotties bring to mind thoughts of a neurological disorder known as “Cerebellar Abiotrophy” or CA for short. It is a slow-to-progress degenerative brain disease that causes premature loss of brain cells in the cerebellum, a section of the brain responsible for controlling smooth motor skills. Due to this loss, a dog will slowly lose the ability to coordinate their voluntary muscular movements.
CA is a hereditary disease caused by a defective autosomal recessive gene. It is documented in several breeds of dogs but has only recently been described in the Scottish Terrier. Many people are still unaware of its existence in the breed. There is no treatment available, and at this time no test for carriers exists.
Symptoms of CA
Textbook symptoms of CA include failure to control the rate, range, and force of a movement, exaggerated limb responses, such as goose-stepping or hopping and delayed and exaggerated postural responses, such as under or overshooting a food bowl when attempting to eat. Limb movements are spastic, clumsy, faltering, and jerky. Often a broad-based stance is present and swaying of the hips may be seen while walking. Initiating movements are delayed and can be accompanied by a slow tremor, which will often disappear at rest.
Symptoms are usually noticed between six months to one year of age and beyond. They can be subtle at first, often an owner may only suspect their Scottie is clumsy. Rebecca Copeland, Tuscaloosa, AL, says, "Emmy started showing symptoms at about 10 months of age, I just thought she was klutzy or uncoordinated but later, when she was unable to do things she had done easily before, I knew it was more than that. She does a peculiar sort of stiff legged goose-step and when she is going full speed, she usually spins completely out of control and does some rather spectacular somersaults."
Signs of this disease vary widely in each dog. Some remain mildly affected and never lose the ability to stand while others progress at a faster rate and have symptoms that are more severe. Assistance might be required for some dogs with advanced disease. My own Scottie with CA, Murphy, who is eight years old, can no longer walk without the aid of a harness and needs to be supported while eating and drinking.
In contrast, Marian Godwin-Clifford, England, says her 11 year-old CA affected Scottie is still doing well. She says, “Hamish is usually referred to as Wobble-Bottom, if she runs she will fall over. Sometimes her legs splay out from under her for no apparent reason and her chin gets the brunt of her falls. She remains a cheerful little dog and still has excellent quality of life, in spite of her handicap and age.”
All owners report their dogs maintain the wonderful, expressive personality Scotties are famous for and they don’t seem too terribly disturbed by their frequent mishaps. Diana Jones, Scottsdale, AZ, describes CA symptoms in her Scottie, Sean Elihu, who at an older age also, gets around well, “He slaps his feet when he walks and sometimes tumbles when he chases a toy or plays. He’s fully alert, responsive and very happy, he doesn’t even know he’s not up to par.”
Scotties with CA can live happily; some simply require a little help. "At five-years-old Holly moves very slowly and methodically, sometimes she’ll even walk backwards. To prevent falls, we carry her up and down any steps. Initially, she had difficulty while changing floor surfaces and when she shook – as a dog does after a bath – she would promptly fall down,” says Barbara Botak, East Norriton, PA.
Another owner of an affected Scottie, Ray Rinaldi, Waterbury, CT, describes movement in his young dog who previously trained in agility, “Mickey continuously tripped over everything and looked like a corkscrew in his efforts to throw his body over jumps. It was actually his problems observed during agility training that first led us on the path to his diagnosis.”
Ray’s vet suspected a neurological disorder early on, he recognized Mickey as having a hypermetric gait. Webster’s defines “hypermetria” as: “A condition of cerebellar dysfunction in which voluntary muscular movements tend to result in the movement of bodily parts beyond the intended goal.” Some owners of CA Scotties have much more difficulty learning what their dog has and might not hear the term “neurological disease” even after several visits to a veterinarian.
Difficulties in Identifying CA
This disorder can be difficult to diagnose, even for a veterinarian, especially if one is unfamiliar with the disease. The relative mildness of symptoms and slow progression of the disease can cause confusion and might complicate diagnosis. CA can also be mistaken for other disorders in the breed, one being Scottie Cramp. Evidence of this confusion is clear when you listen to testimonials from owners who’ve now received the correct diagnosis.
Mary Ann Ratchko, Painesville, OH, was told for several years her Scottie had Cramp. “My vet insisted Percy had Cramp but I knew he had something else, his symptoms were constant and he fell down all the time, he is never normal.” It’s important to remember that Cramp is an occasional condition, which comes and goes.
Carole Fry Owen, a well-known health advocate for the breed and author of a 3-part series on Scottie Cramp says, “Much of the time a Scottie with Cramp will appear perfectly normal. Many dogs with Scottie Cramp rarely show symptoms.”
Compare that to the description of CA given by Dr. Jerold Bell, DVM, an expert on the disease; “Dogs affected with CA have clinical signs of incoordination that are always present.” Some Scotties have Patella luxation (slipping-kneecaps), which can also complicate diagnosis but that is another unrelated condition affecting one or both hind legs.
Jerold Bell, DVM
Dr. Bell is the Assistant Clinical Professor of Genetics at Tufts University School of Veterinary Medicine and is a frequent lecturer to all-breed and individual breed dog clubs. He is the national project administrator for numerous genetic disease control programs of purebred dogs.
Once aware of CA in the Scottish Terrier, Dr. Bell explained the following: “As this disorder has not been "worked up" and reported in the breed, there are many owners, veterinarians, and neurologists out there that are not informed of its presence. An important first step and contribution to the breed is to document it”.
Involvement of the STCA
Dr. Bell contacted the STCA and submitted a proposal, offering to determine the genetic parameters of Cerebellar Abiotrophy in the breed, which would include mode of inheritance, objective frequency estimates, genetic counseling and disease control strategies.
In 2001the STCA Health Trust Fund accepted Dr. Bell’s proposal. Dr. Marcia Dawson, DVM, chairman of the STCA HTF commented on his appointment, “All Scottie owners and breeders are extremely fortunate to have Dr. Bell involved in the study of CA in our breed. Over the years, Dr. Bell has proven himself to be a highly qualified and well-respected geneticist who has made himself available to several other breed organizations to help understand genetic disorders. The STCA HTF is thankful for the opportunity to be able to provide Dr. Bell's guidance and counseling, an invaluable service to all Scottie owners with ataxic dogs.”
Dr. Bell is available to any Scottie owner or breeder, worldwide, who might suspect their Scottie has CA or a neurological disease. He will ask that you make a video of your dog including certain movements and send it to him; after reviewing the tape he'll assist with confirming a diagnosis at no cost. Because specific movements are characteristic of CA, a veterinarian having a great deal of experience with this disease will usually be able to identify it by observing a dog on videotape. He may discover some dogs with a different condition but will direct those cases elsewhere to insure an owner can receive appropriate help.
Pedigree information is important to include, if available. Dr. Bell’s objective is to determine the genetic spread of the defective gene causing CA in the breed and he hopes to one-day offer pedigree analysis to Scottie breeders who wish to prevent this disease from occurring in the future. Another goal is DNA analysis, and the eventual development of a test for carriers, which would provide breeders with an added means to prevent producing this disease. Any and all information sent to Dr. Bell is confidential; he shares it with no one other than qualified research scientists.
If a Scottie owner suspects their dog might have CA and is uncertain what the symptoms look like, a video is available showing several Scotties at different stages of disease, please make a request for a copy of this video to: Debbie Smith, 6556 Pinar Rd., Harborcreek, PA, 16421, Phone# (814) 899-2856.
Original Doc: Cerebellar Abiotrophy In The Scottie.doc