Spinal Dysraphism

General Information: Spinal Dysraphism (SD) is a developmental disorder in dogs where the spinal cord does not form correctly, leading to neurological symptoms. Dogs with this condition often exhibit early signs around 4 to 6 weeks of age, including a "bunny hopping" gait, wide-based and crouching stance, and irregular reflexes particularly in the hind limbs. These symptoms are often accompanied by physical anomalies such as abnormal hair patterns along the spine, spinal curvature, deformities of the sternum, and kinked tails. While the severity of symptoms can vary based on the specific spinal abnormalities, they generally do not worsen over time. This condition impacts the dog's mobility and can affect their quality of life depending on the severity.

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 for Spinal Dysraphism (SD) targets the NKX2-8 gene to determine if a dog is a carrier of the mutation responsible for this condition. Spinal dysraphism is transmitted via an autosomal recessive pattern, requiring a puppy to inherit two copies of the mutated gene—one from each parent—to express the disease. Carriers, which have only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. Each puppy from two carrier parents has a 25% chance of being affected and a 50% chance of being a carrier. Testing is crucial for breeders to identify carriers and make informed breeding decisions to prevent the propagation of this condition. Breeding pairs should be selected to avoid mating carriers, thus reducing the risk of producing affected offspring. Dogs tested clear of the mutation will not contribute to the spread of the disorder in future generations. It's important to note that a negative test result for the NKX2-8 mutation does not rule out other genetic diseases or potential spinal issues caused by different mutations.