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Startle Disease

Startle Disease, or hyperekplexia, is a genetic neurological disorder in Irish Wolfhounds that causes severe muscle rigidity and tremors when handled, often leading to early euthanasia due to poor quality of life.

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.