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Inflammatory Myopathy (Discovered in the Dutch Shepherd Dog)

Inflammatory Myopathy is an inflammatory muscle disorder characterized by progressive weakness and muscle wasting. The associated genetic variant has been identified in the Dutch Shepherd Dog.

Key Signs

Progressive muscle weakness, Muscle wasting, Stiff walking gait

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Inflammatory Myopathy

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Inflammatory Myopathy

Inflammatory Myopathy is a disorder associated with infiltration of inflammatory cells into the muscle, leading to chronic myositis. Inflammatory Myopathy, discovered in the Dutch Shepherd Dog, has an early onset with affected dogs typically presenting between 3 and 9 months of age. These dogs can show a stiff, stilted gait with progressive muscle weakness and atrophy. Serum creatine kinase (CK) may show persistent elevation, and muscle biopsies can show inflammatory infiltrates. Biopsy samples need immunostaining performed for a confirmatory diagnosis to be made. General prognosis is considered poor with research showing affected dogs are often euthanized by 2 years of age.

There is no curative treatment for this disorder, and immunosuppressive therapy is often ineffective. There is evidence to suggest that medications used to combat oxidative stress may be helpful; however, this is still under study. Welfare should be closely monitored, as humane euthanasia may be elected due to the progressive nature of the disorder.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disorder is autosomal recessive, meaning two copies of the variant are needed for a dog to be at an elevated risk for being diagnosed with the condition. A carrier dog with one copy of the Inflammatory Myopathy (Discovered in the Dutch Shepherd Dog) variant can be safely bred with a clear dog with no copies of the Inflammatory Myopathy (Discovered in the Dutch Shepherd Dog) variant. About half of the puppies will have one copy (carriers) and half will have no copies of the variant. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disorder signs similar to the ones associated with this Inflammatory Myopathy variant could develop due to a different genetic or clinical cause.

Technical Details

Gene SLC25A12
Variant A>G
Chromosome 36
Coordinate 16,219,219

All coordinates reference CanFam3.1

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References & Credit

Credit to our scientific colleagues:

Shelton, G.D., Minor, K.M., Li, K., Naviaux, J.C., Monk, J., Wang, L., … Naviaux, R.K. (2019). A mutation in the mitochondrial aspartate/glutamate carrier leads to a more oxidizing intramitochondrial environment and an inflammatory myopathy in Dutch shepherd dogs. J Neuromuscul Dis, 6 (4), 485-501. View the article