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Search Term: Degenerative Myelopathy
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
Disease Name
Degenerative Myelopathy
Disease Name 2
SP110 Nuclear Body Protein
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
OMIA Url
Inheritance
ARIP
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 2 Details
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)
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Heidelberg, BW
DE
DE
Generatio GmbH Center for Animal Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Out Sourced Testing Participation Pending Supporter
Toronto, Ontario
CA
CA
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Saint-Petersburg
RU
RU
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Columbia, Missouri
US
US
Orthopedic Foundation for Animals
HGTD Leadership Sponsor Test Discovery- GTP Non-Participant Out Sourced Testing
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics/ Combibreed
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR
AnimaLabs
Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Participation Pending Supporter-
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Key Comment