Acral Mutilation Syndrome AMS Test Code 250
For breeds: English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel, German Shorthaired Pointer, Old English Sheepdog & Sheepadoodle
Clinical signs/Disease description:
The term acral refers to peripheral parts of body, such as limbs, fingers, or toes. Acral
Mutilation Syndrome (AMS) in dogs is a rare inherited sensory
neuropathy that results in insensitivity to pain and progressive
mutilation of the distal extremities. Affected dogs lick, bite and
severely self-mutilate their distal extremities. Auto-amputation of
claws, digits and footpads occurs in severe cases.
dogs may be identified soon after birth by their lack of response to
acral pinprick or compression. However, in most cases the diagnosis is
made at about 4 months when the affected pups, which are notably smaller
than unaffected littermates, suddenly begin to lick and bite their paws
(1). This disease has been reported in German Short-Haired Pointers,
English Pointers, English Springer Spaniels and French Spaniels as
recessively inherited condition (1, 2).
of dedicated effort by the Canine Genetics Research team at University
of Rennes (CNRS) in France led to discovery of the AMS mutation (3).
ANTAGENE, a DNA research laboratory in France, has commercialized a DNA
test that detects this mutation in the following breeds: English Cocker
Spaniel, French Spaniel, English Springer Spaniel, English Pointer,
German Shorthaired Pointer. OptiGen is pleased to assist North American
owners of such breeds who wish to test their dogs for AMS. To make this
test more convenient for these clients, OptiGen is serving as an
agent for Antagene, by rendering blood or cheek swab samples into DNA
and shipping the DNA to Antagene. Antagene owns the international
license for testing Acral Mutilation Syndrome and will perform the DNA
testing in their laboratory in France. OptiGen will obtain the results
of the test from Antagene as soon as the tests are completed and send
reports to the owners.
The Antagene DNA-based Acral Mutilation
Syndrome (AMS) test distinguishes the mutant and the normal copy of the
gene and allows separation of dogs into three groups: Normal/Clear
(homozygous normal), Carrier (heterozygous) and Affected (homozygous
PLEASE NOTE: The Acral Mutilation Syndrome
test is performed in the laboratories of Antagene in France. There is
typically a 3-4 week delay after OptiGen receives a sample before AMS
test results are available for reporting.
Cummings JF et al (1983) Hereditary sensory neuropathy. Nociceptive loss
and acral mutilation in pointer dogs: canine hereditary sensory
neuropathy. Am J Pathol 112(1):136-138
2. Paradis M et al (2005) Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol 16(2):87-93
3. Plassais J, Lagoutte L, Correard S, Paradis M,
Guagučre E, HeÂdan B, 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(12): e1006482.