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Phenotype: Affected dogs usually present clinical signs of disease in adulthood (at least 8 years of age) with gradual muscle wasting and loss of coordination typically beginning in the hind limbs. Disease progression continues until the dog is unable to walk. Small breed dogs tend to progress more slowly. In late stages of the disease, dogs may become incontinent and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of signs.
Mode of Inheritance: Autosomal recessive, incomplete penetrance
Alleles: N = Normal/Unaffected, DM = Degenerative myelopathy
Breeds appropriate for testing: Many breeds
Explanation of Results:
- Dogs with N/N genoytpe will not have degenerative myelopathy and cannot transmit this variant to their offspring.
- Dogs with N/DM genotype will not have degenerative myelopathy, but are carriers. They will transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% degenerative myelopathy-affected puppies.
- Dogs with DM/DM may have degenerative myelopathy, a disabling condition, and will transmit this variant to all of their offspring.
Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)
Boxer Health Panel
$80 per animal
Bulldog Health Panel
$110 per animal
Doberman Pinscher Health Panel
$130 per animal
French Bulldog Health Panel 1
$130 per animal
French Bulldog Health Panel 2
$130 per animal
German Shepherd Health Panel
$130 per animal
Golden Retriever Health Panel
$130 per animal
Irish Setter + Irish Red & White Setter Health Panel
$130 per animal
Labrador Retriever Health Panel 1
$165 per animal
Labrador Retriever Health Panel 2
$180 per animal
Nova Scotia Duck Tolling Retriever Health Panel
$130 per animal
Rottweiler Health Panel
$130 per animal
Degenerative myelopathy (DM) is an inherited neurologic disorder of dogs similar to Lou Gehrig’s disease in humans. Affected dogs usually present clinical signs of disease in adulthood (at least 8 years of age) with gradual muscle wasting and loss of coordination that typically begins in the hind limbs because of nerve degeneration. Disease progression continues until the dog is unable to walk. Small breed dogs tend to progress more slowly. In late stages of the disease, dogs may become incontinent and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of signs.
The disease is inherited in an autosomal recessive fashion with incomplete penetrance, and is caused by a mutation (c.118G>A) in the gene SOD1. Thus, two copies of the SOD1 mutation (DM/DM) confer increased risk for DM but not all DM/DM dogs across breeds will develop the disease. The variable presentation between breeds suggests that other genetic and environmental factors play a role in disease expression. There is ongoing research to identify other genetic factors that modify risk for DM in different breeds. In addition, similar disease presentation is observed in some animals that do not have the SOD1 mutation.
Genetic testing for the SOD1 (c.118G>A) mutation, reported by the VGL as DM, helps breeders establish the genetic status of breeding stock and select mating pairs appropriately to reduce the risk of producing DM-affected offspring. Breeding two carriers of the SOD1 mutation together is predicted to produce 25% pups that may develop DM.
Based on a 2014 study by Zeng and colleagues, the SOD1 mutation (c.118G>A) has been detected in at least 124 dog breeds to date. Clinical signs of DM with confirmed histopathologic findings and a homozygous DM/DM genotype has been reported in mixed breed dogs and dogs from the following breeds: American Eskimo Dog, Australian Shepherd, Bernese Mountain Dog, Bloodhound, Borzoi, Boxer, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, English Springer Spaniel, German Shepherd, Golden Retriever, Kerry Blue Terrier, Pembroke Welsh Corgis, Pug, Rhodesian Ridgeback, Rough Collie, Soft Coated Wheaten Terrier, Standard Poodle, and Wire Fox Terrier.
Species
Breed
Type of Test
Test Result | Degenerative Myelopathy (DM) |
---|---|
N/N | No copies of the DM mutation. |
N/DM | 1 copy of the DM mutation. |
DM/DM | 2 copies of the DM mutation. Dog may develop DM disease. |
Coates, J. R., March, P. A., Oglesbee, M., Ruaux, C. G., Olby, N. J., Berghaus, R. D., O'Brien, D. P., Keating, J. H., Johnson, G. S., & Williams, D. A. (2007). Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. Journal of Veterinary Internal Medicine, 21(6), 1323. doi: 10.1892/07-059.1
Awano, T., Johnson, G. S., Wade, C. M., Katz, M. L., Johnson, G. C., Taylor, J. F., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, P. A., Olby, N. J., Shelton, G. D., Khan, S., O'Brien, D. P., Lindblad-Toh, K., & Coates, J. R. (2009). Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences, 106(8), 2794-2799. doi: 10.1073/pnas.0812297106
Shelton, G. D., Johnson, G. C., O’Brien, D. P., Katz, M. L., Pesayco, J. P., Chang, B. J., Mizisin, A. P., & Coates, J. R. (2012). Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. Journal of the Neurological Sciences, 318(1-2), 55-64. doi: 10.1016/j.jns.2012.04.003
Zeng, R., Coates, J. R., Johnson, G. C., Hansen, L., Awano, T., Kolicheski, A., Ivansson, E., Perloski, M., Lindblad-Toh, K., O'Brien, D. P., Guo, J, Katz, M. L., & Johnson, G. S. (2014). Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. Journal of Veterinary Internal Medicine, 28(2), 515-521. doi: 10.1111/jvim.12317