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Degenerative Myelopathy Overview

Degenerative Myelopathy
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: Superoxide dismutase 1 (SOD1) on chromosome 31

Variant Detected: Base Substitution c.118G>A p.Glu40Lys

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive with Incomplete Penetrance

Test Overview:
Degenerative myelopathy is most commonly seen in the German Shepherd Dog, although other breeds are also predisposed, including the boxer, Cardigan and Pembroke Welsh Corgi, Siberian husky and the Rhodesian ridgeback. This disease is normally seen around middle age, and in general diagnosis can only be confirmed at post mortem examination. Breed surveys of some predisposed breeds indicate a fairly low occurrence rate, but most experts think this rate is actually much higher, due to the lack of post mortem follow up of the majority of suspected cases. Signs are due to the immune-mediated destruction of a part of the nerves in the spinal cord, leading to loss of these nerve fibres. The first sign is knuckling of the hind feet, and hind limb ataxia. Once the spinal cord damage progresses past this initial stage (termed proprioceptive deficits), the effectiveness (if any) of treatment is much diminished. Hence early diagnosis is vital. Following this initial stage, hind limb reflexes are affected, then weakness in the hind limbs develops, progressing to total paralysis. Once a dog shows these signs it will almost always respond poorly to therapy. Eventually destruction progresses from the middle of the spinal cord to the upper cord and brain stem, leading to forelimb weakness and eventually interference with the muscles of breathing, causing death. Most dogs are euthanased for humane reasons before this happens. Treatment is with specific supplements and drugs aimed at interfering with the immune destruction in the spinal cord, to slow further nerve damage. The effectiveness of this treatment is variable, but is only of benefit if started as early as possible. Once nerves are lost, they will not be replaced. Degenerative myelopathy cannot be cured. A DNA test is available for predisposed pure breeds to carry out screening of breeding animals.


Research Citation(s): Awano T, et al. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis (2009)Proc Natl Acad Sci;106(8);2794-2799.

Associated Breed(s): American Cocker Spaniel,  American Eskimo Dog,  Australian Bulldog,  Belgian Lakenois Shepherd,  Belgian Malinois Shepherd,  Belgian Tervueren Shepherd ,  Bernese Mountain Dog,  Border Collie,  Borzoi,  Boxer ,  British Bulldog,  Canaan Dog,  Cardigan Welsh Corgi,  Cavalier King Charles Spaniel,  Chesapeake Bay Retriever ,  Chinese Crested,  Collie Rough,  Collie Smooth,  Curly Coated Retriever,  Finnish Lapphund,  French Bulldog,  German Shepherd Dog,  Golden Retriever,  Goldendoodle,  Great Pyrenees,  Kerry Blue Terrier,  Koolie ,  Labradoodle ,  Labrador Retriever,  Old English Sheepdog ,  Pembroke Welsh Corgi,  Toy Poodle,  Miniature Poodle,  Standard Poodle,  Portuguese Water Dog,  Pug,  Rhodesian Ridgeback ,  Rottweiler ,  Soft Coated Wheaten Terrier,  Spoodle,  Staffordshire Bull Terrier ,  White Swiss Shepherd,  Mixed Breed,  Australian Terrier,  Australian Silky Terrier,  Miniature Pinscher ,  Bloodhound,  Cane Corso Italiano,  Boykin Spaniel,  Australian Cobberdog,  Saint Bernard ,  Rat Terrier,  Beagle,  Alaskan Malamute,  English Springer Spaniel,  Irish Setter,  Puli,  Tenterfield Terrier ,  Wire Fox Terrier,  Norwich Terrier,  Nova Scotia Duck Tolling Retriever ,  Australian Shepherd,  Welsh Terrier ,  Chow Chow,