Startle Disease

General Information: Startle Disease, also known as hyperekplexia, is an inherited neurological disorder that affects Irish Wolfhounds. This condition is typically evident in affected puppies between 5 to 7 days of age, presenting with rigid limbs and tremors in response to being handled. Symptoms cease when the puppies are relaxed or asleep. Affected puppies often cannot stand and are noticeably smaller than their littermates. They may also experience episodes where they stop breathing and turn blue during suckling, a condition known as cyanosis. Due to the severe impact on their quality of life and the challenges in managing the symptoms, affected puppies are often euthanized within the first few months of life. Early identification and understanding of this condition are crucial to prevent the breeding of affected pups and to provide the necessary care for any puppies that do develop the disease.

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 the SLC6A5 gene is essential for identifying carriers of the mutation responsible for Startle Disease in Irish Wolfhounds. This condition is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, which have only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of developing Startle Disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies that will develop this debilitating condition. By identifying carriers and making informed breeding decisions, breeders can help eliminate this severe neurological disorder from Irish Wolfhound populations, promoting healthier and more robust future generations. It is also important to consider that other genetic or environmental factors may influence similar conditions, so comprehensive testing and careful monitoring are essential for maintaining the overall health of the breed.