X-Linked Tremors (English Springer Spaniel Type)

General Information: Xanthinuria, Type 1 (Mixed breed Type) is an inherited disorder in dogs where elevated levels of the insoluble compound xanthine in the urine lead to the formation of urinary stones. Dogs with two copies of the associated XDH gene mutation are predisposed to this condition, which can manifest at any age. Symptoms include frequent urination, blood in the urine, straining to urinate, loss of appetite, lethargy, weakness, vomiting, and pain. Urinary stones can cause urinary tract infections or blockages, particularly in males due to anatomical differences, potentially leading to serious kidney damage. While not all dogs with the mutation will show symptoms, they will excrete increased xanthine in their urine, and feeding a specialized diet low in purines may help prevent stone formation.

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 XDH gene can determine if a dog is a carrier of Xanthinuria, Type 1 (Mixed breed Type). This condition 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.