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Degenerative Myelopathy (Bernese Mountain Dog Type)

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Test Overview:

Degenerative myelopathy is normally seen around middle age, and in general diagnosis can only be confirmed at post mortem examination. Breed surveys of some predisposed breeds indicate a fairly low occurrence rate, but most experts think this rate is actually much higher, due to the lack of post mortem follow up of the majority of suspected cases. Degenerative myelopathy SOD1B (Bernese mountain dog type) is caused by a Mutation on the SOD1 gene and is currently only identified in Bernese mountain dog breed. Bernese mountain dogs are known to develop a more slowly progressive form of degenerative myelopathy (DM) associated with this mutation. Generally, there is variable presentation between dogs with this disease suggesting that there are other/ environmental factors responsible for modifying disease expression. The average age of onset for dogs with this disease is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present with gradual muscle Atrophy and loss of coordination typically beginning in their hind limbs due to degeneration of the nerves in adulthood. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with DM can be difficult to distinguish from those with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of DM, dogs may lose faecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk within 2 years after the onset of their symptoms. Medium to large dogs that are affected with DM can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SOD1_c52

Variant Detected:

chr31:None (canFam3): A/T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Recommended Screening:

Genetic testing of the SOD1 gene will reliably determine if a dog is a genetic carrier of the degenerative myelopathy SOD1B (Bernese mountain dog type) Mutation.

Research Citation(s):

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. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595] Coates JR, Wininger FA. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 2010 Sep; 40(5):929-50. [PubMed: 20732599] Pfahler S, Bachmann N, Fechler C, Lempp C, Baumgärtner W, Distl O. Degenerative myelopathy in a SOD1 compound heterozygous Bernese mountain dog. Anim Genet. 2014 Apr;45(2):309-10. [PubMed: 24450472]

Associated Breed(s):

Bernese Mountain Dog,
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