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Dog DNA testing illustration

Degenerative Myelopathy Exon 1 (DM Exon 1) – Bernese Mountain Dog

Code: H308

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord.

General information

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, known as SOD1B or as Degenerative Myelopathy Exon 1, occurs specifically in the Bernese Mountain Dog. It is caused by an autosomal recessive with incomplete penetrance mutation to the gene SOD1. A related variant has been observed in a wide range of breeds. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

Specifications

Breeds

Bernese Mountain dog
Gene

SOD1
Chromosome

31
Mutation

c.52A>T
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive with Incomplete Penetrance
Also known as

DM

Clinical features

The mutation for DM is present in almost all dog breeds, but in many breeds, it does not cause clinical symptoms. Most dogs that might be affected are at least 5 years of age or older, at the onset of the clinical signs which include reduced strength in the hind legs, incontinence, hyporeflexia, spasticity and ataxia of the pelvic with progression over time to complete paralysis.

Additional information

This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.

References

Pubmed ID: 21848967

Year published: 2011

Omia ID: 263

Omia variant ID:

Turnaround information

  • 15 working days
  • This test is performed by an external laboratory.
  • CombiBreed takes care of the mediation between you as a customer and the external laboratory.