Mielopatía degenerativa Exón 2 (DM Exón 2)

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, sometimes designated as SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by an autosomal recessive with incomplete penetrance mutation to the gene SOD1. Although the mutation is found in many breeds, the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test. A related variant specific to the Bernese Mountain Dog has also been observed. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

For DM in Pembroke Welsh Corgis there are also multiple Degenerative Myelopathy Risk Modifiers (DMRM) descibed in literature. These SP110 mutations are available for testing in a different package.