Degenerative Myelopathy Exon 2 (DM Exon 2) (External Patent Lab)
Kodas: H806
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, sometimes designated as SOD1A or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is probely caused by an autosomal recessive mutation with incomplete penetrance to the gene SOD1. The variant is found in many breeds, but the disease is rarely diagnosed in breeds or in mixed-breed dogs other than those mentioned for this test.
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.
Specifications
| Breeds | American Water Spaniel, Borzoi, Glen of Imaal Terrier, Poodle (Standard), Schnauzer (Giant), Schnauzer (Miniature), Wire Fox Terrier, Airedale Terrier, Komondor, American Eskimo dog, Australian Shepherd, Bernese Mountain dog, Bloodhound, Boston Terrier, Boxer, Boykin Spaniel, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, English Springer Spaniel, French Bulldog, German Shepherd, Golden Retriever, Jack Russell Terrier, Kerry Blue Terrier, Labrador Retriever, Nova Scotia Duck Tolling Retriever, Pembroke Welsh Corgi, Pug, Rhodesian Ridgeback, Scottish Deerhound, Shetland Sheepdog, Siberian Husky, Soft Coated Wheaten Terrier |
|---|---|
| Gene | SOD1 |
| Chromosome | 31 |
| Mutation | c.118G>A |
| 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: 19188595
Year published: 2009
Omia ID: 263
Omia variant ID:
Turnaround information
- 25 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.