Hyperekplexia, also known as Startle Disease, is an inherited neurological disorder that affects Irish Wolfhounds. This is a severe disease that occurs due to a mutation that causes defective transmission between nerves.
SLC6A5
Autosomal recessive
Affected dogs first show signs around 5-7 days after birth, which may include increased muscle tone and tremors. These signs tend to cease when dogs are relaxed or sleeping. Puppies are unable to stand and show rigid, extended posture across all four limbs. There is a chance of blue gums and/or a suspension of breathing.
A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests and imaging may be required for definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.
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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 Jul;43(1):184-9. doi: 10.1016/j.nbd.2011.03.010. Epub 2011 Mar 17. PMID: 21420493; PMCID: PMC4068303.
Murphy SC, Recio A, de la Fuente C, Guo LT, Shelton GD, Clark LA. A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds. Hum Genet. 2019 May;138(5):509-513. doi: 10.1007/s00439-019-01986-x. Epub 2019 Mar 7. PMID: 30847549.
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
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