Mucopolysaccharidosis VI (Miniature Schnauzer Type)

General Information: Mucopolysaccharidosis VI (MPS VI) (Miniature Schnauzer Type) is an inherited lysosomal storage disorder where affected dogs lack sufficient activity of the enzyme beta-glucuronidase, essential for breaking down glycosaminoglycans (GAGs), key components of connective tissue. The accumulation of GAG breakdown products in cells leads to abnormal growth and function of various organs, with clinical signs most commonly affecting the bones and joints. Affected dogs may display developmental abnormalities such as stunted growth, an enlarged head with a pronounced underbite, and abnormal spinal alignment. Veterinarians may use ultrasounds to detect internal organ abnormalities. While affected dogs can live for several years with supportive care, their quality of life often leads to euthanasia.

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 ARSB gene can determine whether a dog is a carrier of Mucopolysaccharidosis VI (MPS VI) (Miniature Schnauzer Type). This disease follows an autosomal recessive inheritance pattern, meaning a dog must inherit two copies of the mutated gene (one from each parent) to be affected. Carrier dogs do not exhibit disease symptoms, but breeding two carriers together risks producing affected pups. Each pup from such a pairing has a 25% chance of being affected and a 50% chance of being a carrier of the ARSB gene mutation. Reliable genetic testing is crucial for informed breeding decisions. To avoid producing affected pups and eliminate this mutation from breeding lines, it is recommended not to breed two carriers together. Dogs that are not carriers do not have an increased risk of having affected offspring.