Paradoxical pseudomyotonia / PPM (SLC7A10-related) - English Cocker Spaniel / English Springer Spaniel

What does this test examine?

This genetic test analyses the SLC7A10 variant c.126C>A in the English Cocker Spaniel / English Springer Spaniel. The condition is known as Paradoxical pseudomyotonia / PPM and related clinical names used for this disorder.

The tested SLC7A10 variant introduces a premature stop codon and disrupts a transporter important for muscle and nerve function.

What does this condition mean?

Affected dogs usually develop brief episodes of generalised muscle stiffness at a young age after exercise, stairs, jumping or other triggers. Gait can become strikingly stiff or unusual, and severe episodes can involve collapse or breathing difficulty.

For breeders and owners, this type of DNA test is especially valuable because carriers can look healthy. Without DNA results, two carriers may be paired unintentionally and produce puppies with a serious disorder.

Inheritance and result

The trait is autosomal recessive. A clear dog does not carry the variant, a carrier has one copy and a dog with two copies is genetically affected for this tested form.

Practical value of this test

• The result shows whether the dog is clear, carrier or genetically affected for the tested variant.
• Breeders can identify carriers and avoid matings that can produce affected puppies.
• The test gives early certainty before sale, breeding use or mating plans.
• Carriers can remain in breeding responsibly when paired with clear partners, helping preserve genetic diversity.
• The test helps breeders in two related spaniel populations identify hidden carriers before matings are planned.