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Inflammatory Myopathy

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Test Overview:

Inflammatory Myopathy affects dogs and is an inherited muscle disease. Dogs affected with this disease will present between 3 to 9 months of age with generalised muscle weakness. Additional clinical signs that may appear in affected dogs are generalised muscle loss, muscle tremors, and a stiff gait. The disease progresses to an inability to walk, therefor, affected dogs are usually euthanised by 2 years of age due to their poor quality of life.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

SLC35A12

Variant Detected:

chr36:16530334 (canFam4): A/G

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SLC35A12 gene will reliably determine if a dog is a genetic carrier of Inflammatory Myopathy.

Research Citation(s):

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]

Associated Breed(s):

Mixed Breed,
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