Canine degenerative myelopathy (DM) is a slowly progressive, spontaneously occurring, adult-onset spinal cord disorder. Clinical signs appear at 8 years of age or later and start with asymmetric general proprioceptive ataxia and spastic paresis in the hind limbs. One year after onset of clinical signs, dogs usually become paraplegic therefore many owners elect euthanasia. If owners decide to postpone euthanasia, progression of the disease is observed including weakness of thoracic limbs, flaccid tetraplegia, widespread muscle atrophy and dysphagia. The disease occurs with equal frequency in male and female dogs.

To date, two mutations causing DM have been described in Bernese Mountain Dog:

• The mutation in exon 2 of the SOD1 gene (SOD1A) has been described as a cause of DM in many dog breeds including Bernese Mountain Dog.
• The mutation in exon 1 of the SOD1 gene (SOD1B) has been described as a cause of DM only in Bernese Mountain Dog breed.

In Bernese Mountain Dog breed, testing of both known mutations, SOD1A and SOD1B, is recommended.

Inheritance: autosomal recessive - read more

Mutation: SOD1 gene (exon 1)

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.