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 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.
Affected dogs appear normal during low to moderately strenuous activity, but they develop a wobbly, uncoordinated gait that is most severe in the hind limbs after brief bouts of strenuous activity. Typically the dogs remain conscious and are not in pain during an episode. In some cases, however, the signs are severe with full body weakness and low muscle tone (flaccid paralysis), confusion, loss of consciousness, and seizures. Very rarely, death can occur. The episodes typically last 5 to 10 minutes and most dogs will recover completely within 15 to 30 minutes.
Treatment is supportive care during the periods of collapse and limiting strenuous exercise to avoid episodes.
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 disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier dog with one copy of the EIC mutation can be safely bred with a clear dog with no copies of the EIC mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the EIC mutation. A dog with two copies of the EIC mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. 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 disease signs similar to the ones caused by the EIC mutation could develop due to a different genetic or clinical cause.
| Gene | DNM1 |
|---|---|
| Variant | G>T |
| Chromosome | 9 |
| Coordinate | 55,282,762 |
All coordinates reference CanFam3.1
Minor, K. M., Patterson, E. E., Keating, M. K., Gross, S. D., Ekenstedt, K. J., Taylor, S. M., & Mickelson, J. R. (2011). Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds. Veterinary Journal, 189(2), 214–219. View the article
Taylor, S. M., Shmon, C. L., Adams, V. J., Mickelson, J. R., Patterson, E. E., & Diane Shelton, G. (2009). Evaluations of labrador retrieverswith exercise-induced collapse, including response to a standardized strenuous exercise protocol. Journal of the American Animal Hospital Association. View the article
Patterson, E. E., Minor, K. M., Tchernatynskaia, A. V., Taylor, S. M., Shelton, G. D., Ekenstedt, K. J., & Mickelson, J. R. (2008). A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nature Genetics, 40(10), 1235–1239. View the article
Taylor, S. M., Shmon, C. L., Diane Shelton, G., Patterson, E. E., Minor, K., & Mickelson, J. R. (2008). Exercise-induced collapse of Labrador retrievers: Survey results and preliminary investigation of heritability. Journal of the American Animal Hospital Association. View the article
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