Chondrodystrophy and Intervertebral Disc Disease,CDDY/IVDD, Type I IVDD (FGF4 retrogene - CFA12) XXX inherited both copies of the variant we tested XXX is at increased risk for Type I IVDD
How to interpret this result XXX has two copies of an FGF4 retrogene on chromosome 12.
In some breeds such as Beagles, Cocker Spaniels, and Dachshunds (among others) this variant is found in nearly all dogs. While those breeds are known to have an elevated risk of IVDD, many dogs in those breeds never develop IVDD. For mixed breed dogs and purebreds of other breeds where this variant is not as common, risk for Type I IVDD is greater for individuals with this variant than for similar dogs.
What is Chondrodystrophy and Intervertebral Disc Disease,CDDY/IVDD, Type I IVDD? Type I Intervertebral Disc Disease (IVDD) is a back/spine issue that refers to a health condition affecting the discs that act as cushions between vertebrae. With Type I IVDD, affected dogs can have a disc event where it ruptures or herniates towards the spinal cord. This pressure on the spinal cord causes neurologic signs which can range from a wobbly gait to impairment of movement.
Chondrodystrophy (CDDY) refers to the relative proportion between a dog’s legs and body, wherein the legs are shorter and the body longer. There are multiple different variants that can cause a markedly chondrodystrophic appearance as observed in Dachshunds and Corgis.
However,this particular variant is the only one known to also increase the risk for IVDD. When signs & symptoms develop in affected dogs Signs of CDDY are recognized in puppies as it affects body shape. IVDD is usually first recognized in adult dogs, with breed specific differences in age of onset. Signs & symptoms Research indicates that dogs with one or two copies of this variant have a similar risk of developing IVDD. However, there are some breeds (e.g.Beagles and Cocker Spaniels, among others) where this variant has been passed down to nearly all dogs of the breed and most do not show overt clinical signs of the disorder. This suggests that there are other genetic and environmental factors (such as weight, mobility, and family history) that contribute to an individual dog’s risk of developing clinical IVDD. Signs of IVDD include neck or back pain, a change in your dog's walking pattern (including dragging of the hind limbs), and paralysis. These signs can be mild to severe, and if your dog starts exhibiting these signs, you should schedule an appointment with your veterinarian for a diagnosis. How vets diagnose this condition For CDDY, dogs with one copy of this variant may have mild proportional differences in their leg length. Dogs with two copies of this variant will often have visually longer bodies and shorter legs. For IVDD, a neurological exam will be performed on any dog showing suspicious signs.
Based on the result of this exam, radiographs to detect the presence of calcified discs or advanced imaging (MRI/CT) to detect a disc rupture may be recommended.