Inflammatory Myopathy (Shepherd Type)

Affected Genes: SLC35A12
Inheritance: Autosomal Recessive
Mutation: chr36:16530334 (canFam4): A/G
Breed(s): Dutch Shepherd

Add To Cart Search Tests

Common Symptoms

Inflammatory Myopathy (Shepherd Type) is an inherited muscle disease affecting dogs. Affected dogs present between 3 to 9 months of age with generalized muscle weakness. Other clinical signs in affected dogs are generalized muscle loss, muscle tremors, and a stiff gait. The disease progresses to an inability to walk and affected dogs are often euthanized by 2 years of age due to poor quality of life.

Testing Tips

Genetic testing of the SLC25A12 gene will reliably determine whether a dog is a genetic Carrier of Inflammatory Myopathy (Shepherd Type). This disease is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC25A12 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Shelton GD, Minor KM, Li K, Naviaux JC, Monk J, Wang L, Guzik E, Guo LT, Porcelli V, Gorgoglione R, Lasorsa FM, Leegwater PJ, Persico AM, Mickelson JR, Palmieri L, Naviaux RK. 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. 2019;6(4):485-501. [PubMed: 31594244]