Startle Disease
Affected Genes: SLC6A5
Inheritance: Autosomal Recessive
Mutation:
Variant(CamFam6):
chr21:42583698-42587925 (canFam3): 4.2 kb deletion
Breed: Irish Wolfhound
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.
References:
Gill JL, Capper D, Vanbellinghen JF, Chung SK, Higgins RJ, Rees MI, Shelton GD, Harvey RJ. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. Neurobiol Dis. 2011 43(1):184-189.