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What is Cerebellar Abiotrophy ?

Cerebellar abiotrophy is a degenerative disease of the central nervous system that has been found in both animals and humans. There are several types of cerebellar abiotrophy, which include neonatal (before birth), postnatal (after birth), and extrapyramidal nuclear abiotrophy, in which other cells besides Purkinje cells are destroyed. This disease has been reported in many different breeds such as the Beagle, German Shepherd, Old English Sheepdog, German Boxer, and Bullmastiff. The condition is usually noticed within the first few months of life, but in some dogs, it may not be seen for several years. In extrapyramidal nuclear abiotrophy, the disease progresses at a faster rate and includes symptoms not seen in neonatal and postnatal abiotrophy, like seizures and blindness.

The cerebellum is the part of the brain that controls movement and motor function. Those dogs with cerebellar abiotrophy usually show symptoms of exaggerated movements leg movements and goose stepping (overshooting or undershooting the intended step) as well as the lack of menace (blink) response. Cerebellar abiotrophy starts before birth when the cells (Purkinje cells) in the cerebellum mature before they are supposed to and then die, which creates the signs of lacking balance and incoordination. This is a degenerative and progressive disease that lowers the quality of life in most dogs that are affected. Most often, the owner chooses to euthanize to end the suffering within the first year of life.

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Symptoms of Cerebellar Abiotrophy in Dogs

If your puppy has cerebellar abiotrophy, the signs may be obvious at birth or may not be seen until weeks or months later, depending on whether the condition is neonatal or postnatal. Also, there is a third type of cerebellar abiotrophy that affects other brain cells besides Purkinje cells so there are other symptoms if your dog has that type (extrapyramidal nuclear abiotrophy). The most often reported symptoms are:

Neonatal Cerebellar Abiotrophy

  • Seen at birth
  • Inability to nurse
  • Falling
  • Cannot walk or walks with goose stepping
  • Muscle tremors

Postnatal Cerebellar Abiotrophy

  • Seen weeks or months after birth
  • Stiff walking
  • Wide stance
  • Incoordination
  • Falling
  • Head shaking
  • Hyperactivity and aggression
  • Overreaching and overstepping
  • Muscle tremors
  • Knuckling feet
  • No menace reflex
  • High stepping

Extrapyramidal Nuclear Abiotrophy

All the above symptoms as well as:

  • Confusion
  • Blindness
  • Seizures

Types

  • Neonatal cerebellar abiotrophy (very uncommon) – Purkinje brain cells are spontaneously destroyed before birth, causing the symptoms to be noticeable at birth
  • Postnatal cerebellar abiotrophy – The Purkinje brain cells are normal at birth but start to spontaneously degenerate within a few weeks to months
  • Cerebellar and extrapyramidal nuclear abiotrophy – Affects other brain cells besides the Purkinje cells

Causes of Cerebellar Abiotrophy in Dogs

The cause of cerebellar abiotrophy is not known, but it is presumed to be congenital in certain breeds such as:

Neonatal Cerebellar Abiotrophy

  • Samoyed
  • Beagle

Postnatal Cerebellar Abiotrophy

  • Old English Sheepdog
  • Lagotto Romagnolo
  • Gordon Setter (about 6-12 months of age and progresses slowly)
  • German Shepherd (about 6 months of age)
  • German Boxer
  • English Springer Spaniel
  • English Pointer
  • Bullmastiff
  • Bull Terrier
  • Brittany Spaniel (starts in later age, about 10 years old)
  • Border Collie
  • Bernese Mountain Dog
  • Bern Running Dog
  • Australian Kelpie
  • American Staffordshire Terrier (uncommon)
  • Airedale Terrier (uncommon, 12 weeks of age)
  • Labrador Retriever (uncommon, 6-12 weeks of age and progresses rapidly)

Cerebellar and Extrapyramidal Nuclear Abiotrophy

  • Miniature Poodle (4-8 weeks of age and progresses rapidly)
  • Rough Coated Collie
  • Kerry Blue Terrier (2-12 weeks of age)

Diagnosis of Cerebellar Abiotrophy in Dogs

Because there are no exclusive tests to diagnose cerebellar abiotrophy, the veterinarian will most likely perform various tests to rule out other conditions that have similar symptoms such as cerebellar hypoplasia and other central nervous system disorders. Also, the veterinarian will need to know your dog’s medical history and what symptoms you have noticed. A complete physical examination will be done including vitals, palpation, and auscultation. Your dog’s reflexes will be tested to determine if his menace reflex is working properly. Blood tests may be ordered, such as a biochemical analysis, complete blood count, bacterial and fungal cultures.

In addition, the veterinarian will probably want to get some tissue samples for biopsy. Histological results will likely show thinned cerebellar folia and lack of normal Purkinje cells. The cells that are found will be damaged and shrunken. A cerebral spinal fluid analysis should be done to rule out infections such as distemper, encephalitis, toxoplasma. A magnetic resonance imaging (MRI) is used to check the size of the cerebellum. Other imaging may be necessary to get a more detailed view.

Treatment of Cerebellar Abiotrophy in Dogs

There is no effective treatment for cerebellar abiotrophy, but there are ways to help your dog be more comfortable and have a better quality of life while he is still able.

Medications

There are certain medications that can relieve the pain and may help slow the progression of the disease. Some of these are amantadine for pain, buspirone for anxiety, coenzyme Q-10 for protecting cells from damage, and carnitine for improving nerve impulse transmission.

Therapy

To help relieve pain and improve circulation, aqua therapy and massage therapy can both be effective.

Recovery of Cerebellar Abiotrophy in Dogs

The prognosis for cerebellar abiotrophy is grave. The majority of dogs will become so crippled that at some point the owner will have no other option but to choose euthanasia to relieve his suffering. However, the length of this disease varies greatly from one breed to another. Some breeds such as Gordon Setters, Brittany Spaniels, Old English Sheepdogs, and American Staffordshire Terriers do not show any symptoms until adulthood from 10 – 12 years of age. Continue to see your veterinarian for supplemental treatment and advice.

Cerebellar Abiotrophy Questions and Advice from Veterinary Professionals

Smiley
Kelpie
8 Years
Mild condition
0 found helpful
Mild condition

Has Symptoms

not interested in walking very far

About 3 years ago my rescue (a feral female dog believed to be a strongly Kelpie cross) began laying down partway through our walk through the half-acre yard and just wagged her tail when called. She had always been EXTREMELY obedient so this was very strange. One morning a few months later she was unable to get up from her bed in the morning after an extremely cold night. We took her to the vet who believed she had an autoimmune disease which she treated for about a year--mostly during that time my dog could move around some with the help of a Gingerlead. Then her health went downhill and in desperation I went to a vet who specialized in photon therapy and acupunture. At that time she was unable to walk at all. After a treatment or 2 she got a little better and after 6 months of weekly treatments, she could walk and was off all the autoimmune drugs by the end of that year. She was still losing weight, so the acupuncture vet suggested looking into EPI and it was found that her pancreas was no longer working at all. Now about a year later and on the powdered additive in her food to break it down, she is still walking, has gained back the weight she had lost and seems much better and happy. We have to try to keep her from a faster gait than a walk and ramp her in and out of our vehicle because of the damage done to her joints when she could not use her hind legs. Do you think this might have been cerebellar abiotrophy initially? I and one of the vets believes her pancreas quit working because of the very harmful autoimmune drugs she was on for over a year. My concern is that there appears to be no cure for it. She is now about 8 years old and 50 pounds and about 24 inches at the shoulder. I am afraid she may be going downhill again and if this possibly could be abiotrophy, is there any reason to put her through this again. We are weaning her down on acupuncture and photon therapy and are doing it currently once a month. Her meds include gabapentin 100mg 1 in AM 2 in PM, tramadol 25mg AM and PM, omeprazole 20mg AM and PM, tylosin .25 tsp EOD, probiotic + FOS daily, and B injections 1.5ml per week.

Dr. Michele King, DVM
Dr. Michele King, DVM
514 Recommendations
Thank you for your email. It sounds like you have done a really good job working with your veterinary team to manage her conditions. If you are able to continue to keep her comfortable with her current medications, it seems to provide her a good life. If your veterinarian feels that she is starting to deteriorate and you decide that you don't want her to be on immune mediating medications, that will be a decision that your veterinarian can help you with. I hope that you are able to keep her comfrotable for a while longer.

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