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Exercise Induced Metabolic Myopathy

Exercise-induced metabolic myopathy is a rare genetic disorder caused by mutations in the ACADVL gene, leading to impaired fatty acid metabolism, which results in muscle weakness, pain, and exercise intolerance, particularly after physical exertion.

Affected Genes: ACADVL

Inheritance: Autosomal Recessive Inheritance

Variant(canFam6): chr5:32331994 C>A

Breed: German Hunting Terriers

General Information: Exercise Induced Metabolic Myopathy is a condition in dogs caused by a mutation in the ACADVL gene, which affects the ability of muscle cells to utilize certain fats as an energy source. This condition occurs due to a deficiency in very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme critical for fat metabolism, particularly during prolonged exercise or physical activity. The disorder is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to be affected.

Symptoms of Exercise Induced Metabolic Myopathy typically include exercise intolerance, muscle pain, and episodes of muscle stiffness or weakness after physical activity. In severe cases, affected dogs may experience life-threatening complications such as rhabdomyolysis (muscle breakdown), which can lead to kidney damage or other systemic effects. Management involves limiting intense physical activity and maintaining a diet optimized for energy metabolism, under veterinary guidance.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog is a Carrier, Not Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the ACADVL gene variant can determine whether a dog is at risk for developing Exercise Induced Metabolic Myopathy. This disorder is inherited in an Autosomal Recessive manner, meaning a dog must inherit two copies of the mutation to be affected. Dogs with one copy of the mutation are carriers and will not show symptoms but can pass the mutation to their offspring.

Genetic testing is a valuable tool for responsible breeding practices. Breeding two carriers should be avoided, as there is a 25% chance of producing affected offspring. Testing ensures that carriers are paired with dogs free of the mutation to reduce the risk of passing on this condition.


References:
Lepori V, Mühlhause F, Sewell AC, Jagannathan V, Janzen N, Rosati M, Maximiano Alves de Sousa FM, Tschopp A, Schüpbach G, Matiasek K, Tipold A, Leeb T, Kornberg M. A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 (Bethesda) 2018 8(5):1545-1554