Test Detail

Molecular test for acral mutilation syndrome (AMS) in the English springer spaniel, a hereditary sensory neuropathy that causes loss of pain sensation in the distal limbs and leads to self-mutilation of digits and paw pads. It affects the peripheral nervous system (sensory fibres) and compromises welfare through self-inflicted injuries. It is the same entity as the AMS described in other spaniels and pointing breeds, presented here as a specific test for the English springer spaniel.

Affected breeds (OMIA001514-9615): English springer spaniel, English pointer, French spaniel and German shorthaired pointer. The variant was not detected in 900 healthy dogs from 130 different breeds (Plassais et al. 2016). There are no systematically published carrier frequencies for the English springer spaniel: limited data.

- Genotype breeding animals before mating
- Do not mate carrier × carrier (25 % risk of affected homozygotes); carrier × clear produces 0 % affected and 50 % carriers
- An affected animal must not be bred; a carrier can be mated to a clear animal without producing affected offspring
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status

Differential diagnosis with other hereditary sensory neuropathies, peripheral traumatic lesions and orthopaedic/pain causes. Neurological examination (loss of nociception with preserved proprioception, motor function and spinal reflexes) is key. Protective management: bandages, Elizabethan collar and environmental control. The same GDNF-AS variant (OMIA001514) is the multi-breed test for AMS, so it is advisable to check that it is not duplicated with equivalent tests on the same animal.

1. Plassais J et al. (2016) A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. PLoS Genet 12:e1006482. PMID: 28033318
2. OMIA:001514-9615. Acral mutilation syndrome in Canis lupus familiaris. https://omia.org/OMIA001514/9615/