Polyneuropathy (NDRG1) (Alaskan Malamute) Overview
Polyneuropathy (NDRG1) (Alaskan Malamute)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: N-myc downstream regulated 1 (NDRG1) on Chromosome 13
Variant Detected: Base Substitution c.293G>T p.Gly98Val
Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.
Mode of Inheritance: Autosomal Recessive
Test Overview: Polyneuropathy is a progressive, inherited, Neuromuscular Disease affecting Alaskan Malamutes. Affected dogs typically present between 3 and 19 months of age with a combination of voice changes, noisy (high-pitched) breathing sounds, exercise intolerance and/or loss of hind limb muscle coordination. Progression of disease results in significant muscle Atrophy of limbs and spinal musculature, hind limb weakness, a “bunny hopping” gait, and, in some cases, weakness in all four limbs resulting in an inability to walk. While some dogs appear to partially recover and live relatively normal lives, other dogs are euthanized due to the severity of the disease.
Research Citation(s): Bruun CS, et al. A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy. (2013) PLoS One, 8(2)e54547.
Associated Breed(s): Alaskan Malamute,