Inflammatory myopathy

Disease overview

Inflammatory Myopathy is a disorder of the skeletal muscle. This form is inherited by Dutch Shepherd dogs and is characterized by infiltration of inflammatory cells into the muscle due to a dysfunctional metabolic mechanism within the muscle.

Gene name

SLC25A12

Inheritance

Autosomal recessive

Signs and symptoms

This is a rapidly progressive muscle myopathy that presents around 3-9 months of age. Signs include weakness, muscle wasting, tremors, pelvic limb stiffness, and exercise intolerance. This is a painful condition that is considered severe, typically requiring euthanasia before 2 years of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A muscle biopsy may be indicated for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Dutch Shepherd dog

Citations

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. doi: 10.3233/JND-190421. PMID: 31594244; PMCID: PMC6918910.