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Startle Disease (Spanish Greyhound Type)

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Test Overview:

Startle Disease or Hyperekplexia is an inherited neurologic disorder that affects dogs. Affected pups typically present with rigid limbs and tremors when handled between 5-7 days of age, and the symptoms stop when puppies are relaxed or sleeping. Puppies are usually unable to stand and are smaller than their normal littermates. They may stop breathing and turn blue while suckling. Due to poor quality of life, affected pups are often euthanised within the first few months of life.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SLC6A5

Variant Detected:

chr21:42583698-42587925: 4.2 kb deletion

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SLC6A5 gene will reliably determine if a dog is a genetic carrier of startle disease.

Research Citation(s):

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. [PubMed: 21420493]

Associated Breed(s):

Spanish Greyhound,

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