Acral mutilation syndrome (AMS, GDNF-related) - Dog

What does this test examine?

This genetic test analyzes the GDNF/GDNF-AS variant g.70875561C>T associated with acral mutilation syndrome (AMS) in dogs. AMS is an inherited neurological disorder in which pain perception in the paws can be markedly reduced or absent. The variant is located on chromosome 4, in a regulatory region surrounding GDNF, and is considered autosomal recessive.

Why is this test useful?

Affected puppies may begin excessively licking or biting their paws and toes from a young age. Because pain perception is impaired, wounds, infections, claw loss, painless fractures, and even loss of toes may occur without normal pain reactions. Motor function and coordination may remain relatively normal, making the condition confusing for owners and breeders.

The DNA result helps determine whether a dog carries zero, one, or two copies of the tested AMS variant. This is particularly valuable for breeding selection in susceptible Pointer and Spaniel lines, for identifying carriers, and for careful interpretation when young dogs show clinical signs compatible with AMS.

What does the result mean?

• C/C: no copy of the tested variant detected.
• C/T: carrier; usually clinically healthy, but can pass the variant to offspring.
• T/T: genotype associated with AMS; clinical follow-up and breeding advice are important.

This test specifically evaluates the g.70875561C>T variant. Other causes of paw lesions or neurological signs are not excluded by this test.