Acral Mutilation Syndrome (AMS)

Canine

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Price: $45.00Price: £40.00

Breeds: American Cocker Spaniel, American Hairless Terrier, Australian Golden Doodle, Cockalier, Cockapoo, Cocker Spaniel, Deutsch-Drahtaar, English Cocker Spaniel, English Springer Spaniel, German Shorthaired Pointer, German Wirehaired Pointer, Giant Schnauzer, Miniature Schnauzer, Mixed Breed, Mixed Breed (Dog), Old English Sheepdog, Rat Terrier, Sheepadoodle, Sprocker Spaniel, Sprockerpoo, Standard Schnauzer, Unspecified Breed

Description

Acral Mutilation Syndrome (AMS) is an inherited sensory neuropathy that removes a dog’s ability to feel pain and temperature in its feet. Because the feet feel nothing, affected dogs lick, chew and bite at their pads and toes, causing wounds that they do not protect and that are slow to heal. Motor function is not affected: an affected dog walks normally, with normal coordination and reflexes.

Signs usually appear between 3 and 12 months of age. Affected puppies are often smaller than their littermates.

What it looks like

Self-mutilation typically starts at the paws and may affect one foot or several. Common findings include:

  • swollen, reddened paws
  • paronychia, an infection of the tissue beside the nail
  • ulcers on the top and bottom of the paw
  • nail loss
  • painless fractures, and in severe cases loss of claws, toes or footpads

Secondary bacterial and fungal infections are common. There is no cure. Management relies on protecting the feet with bandaging or an Elizabethan collar, treating infections, and sometimes medication to reduce licking. Severely affected dogs are often euthanized.

The mutation

AMS is caused by a single base change in a long non-coding RNA that sits upstream of the GDNF gene and regulates how much GDNF protein is produced. GDNF is a growth factor that sensory nerve cells need in order to develop and survive.

With less GDNF, the sensory nerve fibres that carry pain and temperature signals from the feet to the brain do not develop properly. The nerves that control movement are unaffected, which is why an affected dog walks normally but feels nothing in its feet.

How it is inherited

AMS is autosomal recessive. A dog needs two copies of the mutation, one from each parent, to be affected. A dog with one copy is a carrier: it will never develop AMS, but it passes the mutation to about half of its puppies.

Breeding two carriers together gives each puppy a 25% chance of being affected, a 50% chance of being a carrier and a 25% chance of being clear. Breeding a carrier to a clear dog produces no affected puppies, so carriers can still be used in a breeding program as long as their mates are tested clear.

Possible results

Genotype Description
AMS/AMS At Risk: Dog has two copies of the mutation and is at risk of developing AMS. Every puppy will inherit one copy.
n/AMS Carrier: Dog has one copy of the mutation. It will not develop AMS, but each puppy has a 50% chance of inheriting the mutation. Breed only to clear dogs.
n/n Clear: Dog does not carry the mutation associated with AMS.

Breeds Affected

American Cocker Spaniel, American Hairless Terrier, Australian Golden Doodle, Cockalier, Cockapoo, Cocker Spaniel, Deutsch-Drahthaar, English Cocker Spaniel, English Springer Spaniel, German Shorthaired Pointer, German Wirehaired Pointer, Giant Schnauzer, Miniature Schnauzer, Old English Sheepdog, Rat Terrier, Sheepadoodle, Sprocker Spaniel, Sprockerpoo, Standard Schnauzer, Mixed Breed

Reference

A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies.

Plassais J, Lagoutte L, Correard S, Paradis M, Guaguère E, Hédan B, Pommier A, Botherel N, Cadiergues MC, Pilorge P, Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Méreau A, Quignon P, Derrien T, André C.
PLoS Genet. 2016 Dec 28;12(12):e1006482. doi: 10.1371/journal.pgen.1006482.
PMID: 28033318

Acral mutilation syndrome in a miniature pinscher.

Bardagí M, Montoliu P, Ferrer L, Fondevila D, Pumarola M.
J Comp Pathol. 2011 Feb-Apr;144(2-3):235-8. doi: 10.1016/j.jcpa.2010.08.014. Epub 2010 Oct 18.
PMID: 20961556

Related Tests

Screening a litter? AMS is included in the Cocker Spaniel, English Cocker Spaniel and English Springer Spaniel disorder panels.