Inflammatory myopathy / myositis (SLC25A12-related) - Dutch Shepherd

What does this test analyse?

This genetic test analyses the SLC25A12 c.1046T>C variant in the Dutch Shepherd. The condition is known as inflammatory myopathy, myositis and, also as cerebellar degeneration-myositis complex or CDMC. SLC25A12 encodes a mitochondrial aspartate/glutamate transporter that is important for muscle metabolism.

What does this condition mean?

Affected dogs develop a severe progressive neuromuscular disease. Signs can start early in life and include muscle weakness, muscle loss, tremors, hind limb stiffness, abnormal gait and eventually difficulty or inability to walk. Because this is a recessive condition, identifying carriers is especially important for breeding combinations.

Inheritance and result

The condition is autosomal recessive. A dog with one copy is a carrier and can pass the variant on without being affected. Two copies of the tested variant cause the risk genotype for this SLC25A12-related myopathy.

Result at a glance

• T/T - the tested variant was not detected.
• T/C - carrier; one copy of the variant is present.
• C/C - two copies of the variant; this genotype causes the tested recessive condition.

Practical value of this test

This test gives breeders a clear basis for targeted selection in Dutch Shepherds. By identifying carriers early, matings can be planned to avoid affected puppies while preserving valuable lines. For owners and veterinarians, the result supports genetic interpretation of muscle weakness or movement problems in the correct breed context and helps build a transparent breeding and health strategy.