Test Detail
Acral Mutilation Syndrome (AMS) — spaniels and pointers
Neurological · Dog
Molecular test for acral mutilation syndrome (AMS), an inherited sensory neuropathy that causes loss of pain sensitivity in the distal extremities and leads to self-mutilation of digits and footpads. It affects the peripheral nervous system (sensory fibres) and compromises welfare through self-inflicted injuries. The test reports clear/carrier/affected status for the corresponding variant.
Incidence
Breeds with the validated variant: English Pointer, English Springer Spaniel, French Spaniel, German Shorthaired Pointer and Miniature Pinscher. Other breeds with described cases are not confirmed in OMIA (limited data). Carrier frequencies are not systematically published.
Breeder management
- Genotype breeding animals before mating\n- Do not mate carrier x carrier (25 % risk of affected homozygotes); carrier x clear produces 0 % affected and 50 % carriers\n- An affected animal must not be bred; a carrier can be mated to a clear animal without producing affected offspring\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer
Specialist notes
Differential diagnosis with hereditary sensory neuropathies (sensory receptor syndrome), plexus/peripheral nerve injuries due to trauma, and orthopaedic causes/pain that the animal tries to relieve by licking/biting. Neurological examination (loss of nociception with preserved proprioception) is key. Protective management: bandages, Elizabethan collar and environmental control; in severe cases amputation of the affected digit may be considered.
References
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. PMID: 28033318
2. Paradis M et al. 2005. Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol. PMID: 15842538
3. Correard S et al. 2019. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet. PMID: 30955094
4. BardagĂ M et al. 2011. Acral mutilation syndrome in a miniature pinscher. J Comp Pathol. PMID: 20961556
5. OMIA:001514-9615.
2. Paradis M et al. 2005. Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol. PMID: 15842538
3. Correard S et al. 2019. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet. PMID: 30955094
4. BardagĂ M et al. 2011. Acral mutilation syndrome in a miniature pinscher. J Comp Pathol. PMID: 20961556
5. OMIA:001514-9615.