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Degenerative Myelopathy (Bernese Mountain Dog Type)
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.
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
SOD1_c52
Variant Detected:
chr31:None (canFam3): A/T
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive with Incomplete Penetrance
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,
