Degenerative Myelopathy

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Find out if your dog is at risk of developing Degenerative Myelopathy at CAGT.

CAGT have partnered with Laboklin to provide this test.

CODE DM-SOD1
Categories ,
Turnaround 3-4 weeks
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OMIA OMIA000263-9615
Aliases

Results from this test will be reported as detailed in the Registry Reporting list.

Overview

Part of the official UK Kennel Club testing scheme in Collie (Rough), Collie (Smooth), French Bulldog, Retriever (Chesapeake Bay) and Retriever (Nova Scotia Duck Tolling)

Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of this variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.

Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.

The initial hind limb ataxia often causes a staggering effect that may appear to be arthritis. In addition, affected dogs may drag one or both rear paws walking, which can cause the nails of one foot to be worn down and may lead to extensive paralysis of the back legs. If allowed to progress, front limb involvement will become apparent and extensive muscle atrophy will occur. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia.

Autosomal Recessive

The single nucleotide substitution in the gene called SOD1 that causes Degenerative Myelopathy is autosomal recessive with incomplete penetrance. This means that dogs that carry two copies of the mutation (homozygotes) are at increased risk of developing Degenerative Myelopathy during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) are less likely to develop Degenerative Myelopathy as a result of the SOD1 mutation, but they will pass the mutation onto about half of any offspring they have.

Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.

Gene SOD1
Variant Base Substitution c.118G>A p.Glu40Lys
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Moderate: Affected animals experience significant discomfort or dysfunction, management/treatment costs may be relatively high and life expectancy can be reduced.
Publication

Awano T, GS Johnson, CM Wade et al. (2009) 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(8): 2794-2799 . DOI: 10.1073/pnas.0812297106.

Zeng R, JR Coates, GC Johnson et al. (2014) Breed distribution of SOD1 alleles previously associated with canine degenerative myelopathy. J Vet Intern Med. 28(2): 515-521 . DOI: 10.1111/jvim.12317.

Bell JS. (2021) Degenerative Myelopathy – Diagnosis and inheritance. World Small Animal Veterinary Association 2021 Virtual World Congress. 13 Nov2021.