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Acral Mutilation Syndrome (SPANIEL & POINTER TYPE)

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Test Overview:

Abbreviated as AMS this condition is somewhat rare and results in the dog slowly but progressively over-grooming (licking) or biting their pads and paws leading to bleeding and ulceration. This leads to bacterial and fungal infections and in many cases ulcers. Symptoms can be managed by using 'elizabeth' cones or anti-anxiety medication. if the disorder cannot be managed then euthanasia is common. It is neurological seen in a mutation of the GDNF gene affecting the development of the axon in the dog's neurons, this leads to a decrease in the sensation to recognise pain and temperature sensation.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

GDNF

Variant Detected:

chr4:70875561 (canFam3): C>T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Cummingss 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]

Associated Breed(s):

Bernardoodle, Cockapoo, Cocker Spaniel, English Springer Spaniel, German Shorthaired Pointer, Pointer,

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