Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type 1)

General Information: Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) is a hereditary muscle disorder that appears in dogs around 3 to 4 months of age, causing limb deformities and joint hyperflexion, especially in the wrist and ankle, resulting in a flatfooted stance. Affected dogs may develop muscle atrophy and display an abnormal gait over time. The disease progresses slowly, and dogs can live for many years before the condition becomes severe enough to warrant humane euthanasia.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the COL6A3 gene identifies whether a dog is a carrier of Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type, variant 1). This disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to develop. Carrier dogs typically do not exhibit symptoms but breeding two carriers increases the risk of producing affected pups, with a 25% chance for each pup to inherit the disease and a 50% chance to become a carrier. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed two carriers. Dogs that are not carriers pose no increased risk of having pups with the disease.