Juvenile paroxysmal dyskinesia / PD (SOD1-related) - Dutch Tulip Hound / Markiesje

What does this test examine?

This genetic test analyses the SOD1 variant c.12delinsCAC in the Dutch Tulip Hound / Markiesje. The condition is known as Juvenile paroxysmal dyskinesia / PD and related clinical names used for this disorder.

The tested SOD1 delins causes a frameshift very early in the protein, severely disrupting normal SOD1 function in this juvenile form.

What does this condition mean?

Affected puppies show severe tetraparesis, dystonia, cramping and falling over when trying to walk. Signs start early, often worsen within weeks and have major impact on welfare and breeding plans.

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.
• For the Dutch Tulip Hound, this is especially important to prevent a severe juvenile disorder from appearing in breeding combinations.