Disease overview

Acral Mutilation Syndrome is a brain and spinal cord condition characterized by an inability to feel pain.

Gene name

GDNF

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs appear in young puppies who exhibit an inability to feel pain in distal parts of the body, including the feet. This may present as self-mutilation, as well as excessive licking, biting, and chewing of the feet.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

English Pointer, , ,

Citations

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. 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. doi: 10.1371/journal.pgen.1006482. PMID: 28033318; PMCID: PMC5198995.

Correard, S., Plassais, J., Lagoutte, L., Paradis, M., Guagère, E., Quignon, P., Derrien, T., André, C. A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr 169:190-194, 2017. DOI: 10.4267/2042/61953.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.