Glycogen Storage Disease VII (Wachtelhund Type)

General Information: Glycogen Storage Disease VII (GSD VII) in Wachtelhunds is characterized by a lack of the enzyme phosphofructokinase, which is essential for breaking down glycogen into glucose for energy. This deficiency primarily leads to damage in red blood cells and skeletal muscles. Dogs affected by GSD VII typically exhibit signs such as pale gums due to anemia, lethargy, and reluctance to exercise. After physical exertion or during stress, these dogs may suffer from hemolysis (breakdown of red blood cells), resulting in red or brown urine, muscle cramps, and possibly jaundice. Despite these challenges, affected dogs can live a normal lifespan but may experience recurrent episodes of muscle weakness or hemolysis, especially after activities, progressing to severe muscle wasting and mobility issues.

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 Glycogen Storage Disease VII (GSD VII) in Wachtelhunds involves screening for mutations in the PFKM gene to identify carriers or affected dogs. This disease follows an autosomal recessive inheritance pattern, meaning that a dog must inherit two mutated copies of the gene, one from each parent, to show symptoms of the disease. Carriers, having only one copy of the mutated gene, typically do not display any symptoms but can pass the mutation onto their offspring. Breeding decisions should be informed by reliable genetic testing; mating two carriers poses a 25% risk each puppy will inherit the disease and a 50% chance they will become carriers. To prevent the proliferation of this condition, it is advised against breeding two known carriers. Dogs that test clear of the mutation do not have an increased risk of producing affected offspring. However, a clear genetic test does not exclude the possibility of other unrelated genetic conditions, so ongoing health monitoring and comprehensive genetic screening remain crucial for maintaining breed health.