Acral Mutilation Syndrome (AMS, SN)

GENE AFFECTED: GDNF

RECOMMENDED by the following AKC Parent Clubs: None

OPTIONAL for the following AKC Parent Clubs: None

INHERITANCE: Autosomal Recessive

DESCRIPTION: Acral mutilation syndrome is an inherited neurological disease that significantly impacts quality of life. Dogs with this disease develop insensitivity to pain at a young age, typically starting around 4 months of age. The pain insensitivity results in self-mutilation. Dogs lick and bite their paws, which can lead to loss of toenails and bone fractures. Because affected dogs are unable to feel the pain from wounds on their feet, they often continue to walk with no evidence of pain. Treatment of secondary infections or with amputations can help manage the condition, but ultimately, there is no treatment for the underlying pain insensitivity. Owners often elect euthanasia due to the severity of this disease.

This disease was first described in a litter of Pointers in 1981.

The variant was identified by evaluating French spaniels (21 affected and 28 unaffected), German Shorthaired Pointers, Pointers, and English Springer Spaniels.

• Cummings JF, de Lahunta A, Winn SS. Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol. 1981;53(2):119-27. PubMed: 6259871.
• Plassais J, Lagoutte L, Correard S, Paradis M, Guaguere E, Hedan B, Pommier A, Botherel N, Cadiergues M, Pilorge P, Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Mereau A, Quignon P, Derrien T, Andre C. 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. 2016 Dec 29;12(12):e1006482. PubMed: 28033318.

Please Note: AKC DNA Health Tests are for informational purposes only. A normal result does not exclude a different cause of this disease, either from a different genetic variant, or from another cause. Abnormal results are not diagnostic for the disease. If you are concerned your dog may have this disease, please consult your veterinarian.