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Degenerative Myelopathy
Breed: Akita
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Relevance Rating: All current available evidence has been reviewed, but relevancy is inconclusive, AND/OR the clinical form of this disease has never been seen for these breeds
Relevance Rating: All current evidence indicates that the test is not meaningful or recommended in this breed
General
Disease Name
Degenerative Myelopathy
OMIA
263
Gene Name
SOD1
Gene Name 2
SP110
Mutation
c.118A
Mutation 2
c.52A>T
Test Type
Genetic Disease/Disorder
Key Comments
Commonly tested for in many breeds in some countries, but both clinically rare and of complex inheritance
Details
DM is an incompletely penetrant autosomal recessive disease, usually affecting dogs 5 years of age or older. The mutation tested for in most breeds is the SOD1:c.118A, referred to as SOD1-A or exon 2. In the Bernese Mountain Dog breed two direct DNA tests are available; one for the SOD1:c.118A mutation and one for the SOD1:c.52T, referred to as SOD1-B or exon 1. The test(s) identify animals that are 'clear' of the mutation, 'at risk' of developing clinical signs of DM and 'carrier' animals, who have one copy of the mutated gene. Dogs shown as 'at risk' or 'carrier' will not necessarily develop the disease. Other genetic and/or environmental factors may influence whether a dog will develop the disease. The test(s) are not diagnostic in nature; DM is a diagnosis of exclusion, which means that other diseases with similar clinical signs have to be excluded. A definitive diagnosis of DM can be only obtained by post-mortem examination of the spinal cord. Owners are strongly advised to ensure that they choose the correct test(s) for their breed as more than one test/mutation may be required for more complete information. Mutations appear to be breed-specific. Current research indicates that the c.52a>T mutation applies the BMD breed only. When the test for SOD1-A is done, a clear result only means that the two genes are clear of that specific SOD1-A mutation; the test for the SOD1-B mutation is necessary to complete the genetic picture. In BMD it has been determined that the SOD1 gene will have either the A or B mutation, not both. If a BMD is at risk for SOD1-A (both copies of the SOD1 gene have the A mutation), then the DNA test for the SOD1-B mutation does not need to be done, and vice versa. If a BMD is clear or a carrier for one of the mutations, then the test for the other mutation must also be done in order to learn the actual status for both copies of the SOD-1 gene.
Details 2
DM is an incompletely penetrant autosomal recessive disease, usually affecting dogs 5 years of age or older. The mutation tested for in most breeds is the SOD1:c.118A, referred to as SOD1-A or exon 2. In the Bernese Mountain Dog breed two direct DNA tests are available; one for the SOD1:c.118A mutation and one for the SOD1:c.52T, referred to as SOD1-B or exon 1. The test(s) identify animals that are 'clear' of the mutation, 'at risk' of developing clinical signs of DM and 'carrier' animals, who have one copy of the mutated gene. Dogs shown as 'at risk' or 'carrier' will not necessarily develop the disease. Other genetic and/or environmental factors may influence whether a dog will develop the disease. The test(s) are not diagnostic in nature; DM is a diagnosis of exclusion, which means that other diseases with similar clinical signs have to be excluded. A definitive diagnosis of DM can be only obtained by post-mortem examination of the spinal cord.
Published
Awano, T., Johnson, GS., Wade, CM., Katz, ML., Johnson, GC., Taylor, JF., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, PA., Olby, NJ., Shelton, GD., Khan, S., O'Brien, DP., Lindblad-Toh, K., Coates, JR. : Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 106:2794-9, 2009. Pubmed reference: 19188595. DOI: 10.1073/pnas.0812297106.
Published 2
Pfahler, S., Bachmann, N., Fechler, C., Lempp, C., Baumgärtner, W., Distl, O. : Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog. Anim Genet 45:309-10, 2014. Pubmed reference: 24450472. DOI: 10.1111/age.12118.
Published 3
Ivansson, E.L., Megquier, K., Kozyrev, S.V., Murén, E., Körberg, I.B., Swofford, R., Koltookian, M., Tonomura, N., Zeng, R., Kolicheski, A.L., Hansen, L., Katz, M.L., Johnson, G.C., Johnson, G.S., Coates, J.R., Lindblad-Toh, K. : Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A 113:E3091-100, 2016. Pubmed reference: 27185954. DOI: 10.1073/pnas.1600084113.
Body/System/Process
Neurologic
Inheritance
ARIP
Breed Specific Info
Researched Breeds
American Eskimo dog, Bernese Mountain dog, Boxer, Cardigan Welsh Corgi, Chesapeake Bay Retriever, German shepherd, Golden Retriever, Kerry Blue Terrier, Miniature Poodle, Pembroke Welsh Corgi, Pug, Rhodesian Ridgeback, Siberian Husky, Soft Coated Wheaten Terrier, Standard Poodle, Wirehaired Fox Terrier
Breed-specific 1
German Shepherd
Breed-specific 1 Details
Breed-specific 2
Bernese Mountain Dog
Breed-specific 3
French Bulldog, Salukis
Breed-specific details 3
French Bulldogs: concerns have been raised by experts regarding the relevance of this test for French Bulldogs. Main concerns include a lack of mutation correlation to clinical disease. Related ref: Mayousse et. al. Prevalence of neurological disorders in French Bulldogs. Salukis: international reports indicate no reported or confirmed cases of DM (B. Thiel)
Key Comment