Juvenile onset
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs are highly likely to show signs of this disease in their lifetime.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Hereditary Ataxia has an early onset with affected dogs usually first showing clinical signs between 3 and 6 months of age. Affected dogs exhibit a generalized hypermetric ataxia (lack of muscle coordination and overreaching steps) that is worse in the hindlimbs, weakness and partial paralysis of the hindlimbs, and a palmigrade stance (standing flat footed with the wrists touching the ground). Generalized involuntary muscle contractions can be triggered by sedation. Affected dogs may also have decreased body size and weight compared to non-affected dogs of the same age. Clinical signs are progressive and generally result in an inability to walk by 2 to 3 years of age.
There is no curative treatment for the disorder. Depending on the severity of clinical signs, an affected dog can be supported to reduce the likelihood of injury when moving around. Stairs may pose a particular risk and should be made inaccessible as a precaution. Due to its progressive nature, long-term prognosis is poor and humane euthanasia may be elected depending on quality of life.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Hereditary Ataxia (Discovered in the Belgian Malinois) variant can be safely bred with a clear dog with no copies of the Hereditary Ataxia (Discovered in the Belgian Malinois) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this Hereditary Ataxia variant could develop due to a different genetic or clinical cause.
| Gene | SLC12A6 |
|---|---|
| Variant | Insertion |
| Chromosome | 30 |
| Coordinate Start | 774,122 |
| Coordinate End | 774,125 |
All coordinates reference CanFam3.1
Van Poucke, M., Stee, K., Sonck, L., Stock, E., Bosseler, L., Van Dorpe, J., … Broeckx, B.J.G. (2019). Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs. Eur J Hum Genet, 27(10), 1561-1568. View the article
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