Alaskan Malamute Polyneuropathy
Affected Genes: NDRG1
Inheritance: Autosomal Recessive
Variant(canFam6):
chr13:29691862: C>A
Breed: Alaskan Malamute
General Information: Alaskan Malamute Polyneuropathy (AMPN) manifests as a progressive neuromuscular disorder affecting young Alaskan Malamutes, typically between 3 to 19 months of age. Symptoms begin subtly with changes in the dog's voice and unusual, high-pitched breathing sounds, escalating to more apparent signs such as exercise intolerance and lack of coordination in the hind limbs. As the condition progresses, affected dogs may experience severe muscle wasting, particularly in the hind limbs and spinal area, leading to a distinctive "bunny hopping" gait and, in severe cases, total loss of mobility in all four limbs. The severity of symptoms can vary significantly among affected individuals; some may experience periods of partial recovery and lead relatively normal lives, while others may require euthanasia due to profound physical limitations and diminished quality of life.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing for Alaskan Malamute Polyneuropathy (AMPN) is conducted through analysis of the NDRG1 gene, which can determine whether an individual dog is a carrier of the genetic variant responsible for AMPN. Inherited in an autosomal recessive pattern, two copies of the mutated gene (one from each parent) are necessary for a dog to exhibit symptoms of the disease. Dogs with only one copy of the mutated variant (carriers) do not typically show any clinical symptoms but have a 50% chance of passing the mutation to their offspring. Breeding two carriers results in a 25% chance of producing affected offspring and a 50% chance of producing another carrier. Strategic breeding decisions, informed by genetic testing, are crucial to reduce the incidence of this condition in the breed. Additionally, while genetic testing is a valuable tool for breeders, a clear result does not rule out other potential genetic disorders, emphasizing the need for comprehensive health screening in breeding programs.
References:
Braund KG, Shores A, Lowrie CT, Steinberg HS, Moore MP, Bagley RS, Steiss JE. Idiopathic polyneuropathy in Alaskan malamutes. J Vet Intern Med. 1997 11(4):243-249.
Bruun CS, Jaderlund KH, Berendt M, Jensen KB, Spodsberg EH, Gredal H, Shelton GD, Mickelson JR, Minor KM, Lohi H, Bjerkas I, Stigen O, Espenes A, Rohdin C, Edlund R, Ohlsson J, Cizinauskas S, Leifsson PS, Drogemuller C, Moe L, Cirera S, Fredholm M. A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan malamutes with polyneuropathy. PLoS One 2013 8(2):e54547.