Neurodegeneration w/ Alpha-Mannosidase Deficiency and Cytoplasmic Vacuoles

General Information: Neurodegeneration with Alpha-Mannosidase Deficiency and Cytoplasmic Vacuoles is an inherited disorder in dogs characterized by the accumulation of complex sugars within cells due to a deficiency of the enzyme alpha-mannosidase. This condition results from a genetic mutation affecting the enzyme's production, leading to progressive neurological degeneration. Dogs with two copies of the associated mutation are predisposed to this condition, which can manifest at a young age. Symptoms include tremors, uncoordinated movements (ataxia), behavioral changes, vision loss, and general weakness. As the disease progresses, it can lead to severe neurological impairment and significantly impact the dog's quality of life. While dogs with one copy of the mutation (carriers) usually do not show symptoms, they can pass the gene to their offspring. Early detection through genetic testing and careful breeding practices are essential for managing and potentially eliminating this condition from breeding lines.

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 of the specific gene associated with Neurodegeneration with Alpha-Mannosidase Deficiency and Cytoplasmic Vacuoles can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.