Disease overview

Exercise-Induced Metabolic Myopathy (EIMM) is a disease affecting mainly the German Hunting Terrier breed. This inherited muscle disorder is caused by defects in fatty acid oxidation, which is crucial for mitochondrial energy production. This metabolic disorder results in weakness of limb, muscle pain, and muscle degeneration from physical exercise.

Gene name

ACADVL

Inheritance

Autosomal recessive

Signs and symptoms

Symptoms of EIMM include generalized weakness, exercise-induced intolerance, limited joint movement, and diffuse muscle pain that is often severe. Symptoms are generally induced by stress, not only from physical exertion, but exposure to the cold. This disease is characterized by an increased level of creatine kinase in blood plasma (a sign of muscle cell damage), as well as the rapid breakdown of skeletal muscles from the release of myoglobin into the bloodstream and into urine (myoglobin is a protein found in the muscles attached to bones and tendons). Affected dogs exhibit dark, discolored brown urine after physical exercise from this degradation process.

How is it diagnosed

A veterinarian will conduct a thorough examination and review of health history. They may conduct a urinalysis and a biochemistry panel to determine if there is muscle damage. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Lepori V, Mühlhause F, Sewell AC, Jagannathan V, Janzen N, Rosati M, Alves de Sousa FMM, 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 May 4;8(5):1545-1554. doi: 10.1534/g3.118.200084. PMID: 29491033; PMCID: PMC5940147.

Jagannathan V, Drögemüller C, Leeb T; Dog Biomedical Variant Database Consortium (DBVDC). A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Anim Genet. 2019 Dec;50(6):695-704. doi: 10.1111/age.12834. Epub 2019 Sep 5. PMID: 31486122; PMCID: PMC6842318.

Mühlhause F, Tipold A, Rohn K, Lepori V, Leeb T, Sewell AC, Kornberg M. Verlaufsuntersuchungen bei Deutschen Jagdterriern mit belastungsabhängiger metabolischer Myopathie [Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere. 2019 Dec;47(6):402-410. German. doi: 10.1055/a-1027-2533. Epub 2019 Dec 6. PMID: 31814088.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.