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

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Canine Degenerative Myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterized by the progressive loss of neurons in the central nervous system (CNS), leading to functional impairments. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination) and paresis of the hind legs. DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

In Pembroke Welsh Corgi (PWC) a risk modifier has been found in the SP110 nuclear body protein. When present alongside a homozygous SOD1 (DM Exon 2) mutation, this modifier may increase the risk of developing DM and clinical signs will occur at an earlier age.

The variant analysed in this test is the first risk modifier out of five.

Caractéristiques cliniques

Most dogs affected with DM begin to show signs at 9 years of age or older. These signs include reduced strength in the hind legs, incontinence, hyporeflexia, spasticity, and pelvic limb ataxia. The disease progressively worsens, eventually leading to complete paralysis.

When one or more SP110 Degenerative Myelopathy Risk Modifiers (DMRM) are present in a Pembroke Welsh Corgi, alongside a SOD1 mutation, clinical signs will likely start at an earlier age.

Additional Information

Other mutations, SOD1B ( in Bernese Mountain Dogs) and SOD1A (found in several breeds, including PWC), are associated with DM. Please note: Testing for the SP110 risk modifier is only relevant for dogs that are homozygous for the SOD1A mutation.

The mutation in this test should be considered a risk factor. It is associated with the disorder, but does not necessarily guarantee the development. If the mutation for SOD1A is absent, the presence of SP110 mutations does not have any advantages or disadvantages for the dog.

Références

Pubmed ID: 27185954

Omia ID: 263

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