β-Mannosidosis

General Information: Canine β-Mannosidosis is a rare inherited lysosomal storage disorder caused by a mutation in the MANBA gene. This condition disrupts the normal breakdown of certain carbohydrates in cells, leading to an accumulation of these substances in various tissues. Canine β-Mannosidosis is inherited in an Autosomal Recessive manner, meaning that a dog must inherit two copies of the mutated gene (one from each parent) to be affected. Dogs with only one copy of the mutation are carriers but do not typically show symptoms. Symptoms in affected dogs often include progressive neurological deficits such as tremors, ataxia (lack of coordination), and developmental delays. Additional signs may include vision and hearing impairments. Unfortunately, this condition is severe and currently lacks a cure. Affected puppies often exhibit symptoms shortly after birth and may have a shortened lifespan.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog is a Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the MANBA gene variant can determine a dog’s risk of developing Canine β-Mannosidosis or identify carrier status. Since this disorder is inherited in an Autosomal Recessive manner, dogs with two copies of the mutation are affected, while those with one copy are carriers and will not show symptoms. Dogs without the mutation are unaffected and cannot pass the condition to their offspring. Genetic testing is critical for responsible breeding practices, as breeding two carrier dogs will result in a 25% chance of producing affected offspring and a 50% chance of producing additional carriers. By identifying carriers, breeders can make informed decisions to prevent the propagation of this devastating disorder.