Juvenile myoclonic epilepsy / JME (DIRAS1-related) - Rhodesian Ridgeback

What does this test examine?

This genetic test analyses the DIRAS1 variant c.564_567delAGAC in the Rhodesian Ridgeback. The condition is known as juveniele myoclonische epilepsie / JME, also called JME, juvenile myoclonic epilepsy and DIRAS1-related epilepsy.

JME causes epileptic seizures with short muscle jerks and seizure episodes that can appear at a young age. Identifying carriers is valuable because clinically healthy parents can together produce affected puppies.

Practical value of this test

• The result helps breeders identify carriers and dogs with a relevant risk genotype.
• It supports breeding choices that strongly reduce the chance of affected puppies.
• For owners and veterinarians, the result adds clear genetic context for early signs, breed screening and breeding or purchase decisions.

Who benefits from this test?

This analysis is valuable for breeders who want to know inherited risks before planning a mating, for owners who want clarity about their dog’s genetic status and for veterinarians who want genetic context for early or breed-associated signs. The test supports selection without unnecessarily excluding good breeding animals: a carrier can often still be used responsibly when paired with a clear-tested partner.

• helps reveal hidden carriers before puppies are born;
• makes pedigree and line planning more concrete because each dog has its own result;
• reduces the chance of unexpected affected puppies when results are used consistently;
• gives buyers and puppy owners clearer information about inherited health within the line.

Inheritance and result meaning

The condition is inherited as an autosomal recessive trait: two copies cause JME, while one copy means carrier status. The test helps breeders combine carriers safely and avoid affected puppies. Clinical expression can vary between dogs, but the genotype gives clear breeding information.