Alaskan Husky Encephalopathy

General Information: Alaskan Husky Encephalopathy (AHE) is an inherited neurological disease that primarily affects Alaskan Huskies. This condition arises from a genetic mutation that disrupts the production of a protein essential for transporting thiamine (vitamin B1) into cells, particularly those in the nervous system. Thiamine is crucial for energy metabolism, and its deficiency leads to neuron death in the brain, causing severe neurological symptoms. Affected dogs typically exhibit signs between 6 months and 2 years of age, including limb weakness, altered mental states, loss of balance, abnormal gait, decreased facial pain sensitivity, difficulty eating or swallowing, seizures, and blindness. The progression of AHE can vary, with some dogs experiencing periods of static disease progression. However, most affected dogs die from complications or are humanely euthanized within a few months of the initial presentation due to the severity of the disease and the impact on their 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 the SLC19A3 genetic variant can identify carriers of the mutation responsible for Alaskan Husky Encephalopathy (AHE) in Alaskan Huskies. Inherited in an autosomal recessive manner, a dog must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carrier dogs, which have only one copy of the variant, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing AHE and a 50% chance of being a carrier. Regular genetic testing is essential to avoid breeding two carriers, thereby reducing the risk of producing puppies affected with this severe neurological disorder. By identifying carriers and making informed breeding decisions, breeders can help eliminate this condition from affected lines, ensuring healthier and more resilient future generations. It is also important to note that while genetic testing for the SLC19A3 mutation can reduce the risk of AHE, other genetic or environmental factors may still contribute to similar conditions, necessitating comprehensive genetic screening and careful management.