Cerebellar Degeneration-Myositis Complex / CDMC (SLC25A12-related) - Nova Scotia Duck Tolling Retriever

What does this test analyse?

This genetic test analyses the SLC25A12 c.1337C>T variant in the Nova Scotia Duck Tolling Retriever. The disorder is described as cerebellar degeneration-myositis complex, abbreviated CDMC.

What does this mean for the dog?

CDMC is a severe degenerative neuromuscular disorder involving both the cerebellum and muscles. Affected puppies may develop ataxia, head tremors, hypermetria, generalized weakness, exercise intolerance, stiffness, collapse episodes and bunny-hopping from about 10 weeks to 6 months of age. The disorder can be severe and is important for breeding plans within the breed.

Practical value of this test

• Breeders can identify CDMC carriers before planning a mating.
• The result helps avoid carrier x carrier matings and lowers the risk of affected puppies.
• In young Tollers with ataxia, weakness or exercise intolerance, the test supports a concrete genetic explanation.
• The test helps communicate health information clearly for sales, breeding advice and breed management.

Inheritance and result

The trait is autosomal recessive. C/C means clear, C/T means carrier and T/T causes the genetic form of SLC25A12-related CDMC.