Inflammatory Myopathy (Shepherd Type)
Affected Genes: SLC35A12
Inheritance: Autosomal Recessive
Variant(canFam6):
chr36:16229006: A>G
Breed: Dutch Shepherd
General Information: Inflammatory Myopathy (Shepherd Type) is a genetic muscle disease that primarily affects Dutch Shepherds. Dogs with this condition typically start showing symptoms between the ages of 3 to 9 months. The disease is characterized by generalized muscle weakness, significant muscle loss, tremors, and a stiff gait. As the condition progresses, affected dogs become increasingly unable to walk or perform normal activities, leading to a decline in their overall quality of life. By the age of two, many affected dogs may be euthanized due to severe muscle degeneration and associated complications. Early diagnosis and understanding of this condition are crucial, as it helps in managing symptoms and improving the quality of life for the affected dogs for as long as possible.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for the SLC35A12 gene is essential for identifying carriers of the mutation responsible for Inflammatory Myopathy (Shepherd Type) in Dutch Shepherds. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Dogs carrying only one copy of the mutation (carriers) typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing Inflammatory Myopathy and a 50% chance of being a carrier. Reliable genetic testing is critical for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with this debilitating muscle disorder. By identifying carriers and making informed breeding decisions, breeders can help eliminate this condition from Dutch Shepherd populations, promoting healthier and more robust future generations. While genetic testing for the SLC35A12 mutation can reduce the risk of this condition, other genetic or environmental factors may still contribute to similar muscle disorders, necessitating comprehensive genetic screening and management to ensure the health and well-being of the breed.
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.