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Hyperekplexia

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed

General

Disease Name
Hyperekplexia
Mutation
4230bp microdeletion of exons 2 and 3
Test Type
Genetic Disease/Disorder
Details
Hyperekplexia is a neurological disorder. The disorder is characterized by startle responses triggered by noise or touch. Symptoms include: startle reflex, puppies who are unable to stand and have a rigid extended posture, tremor (early on), cyanosis (turning blue) while feeding, puppies that are smaller and lighter than thier unaffected littermates. Age of onset from birth, with affected puppies showing clinical signs 5 to 7 days after birth. The symptoms appear to cease when the animals are sleeping or are relaxed. Some of the abnormalities appear more severe in male puppies than in the female.
Details 2
Hyperekplexia is a neurological disorder. The disorder is characterized by prominent startle responses triggered by noise or touch. Symptoms include: prominent startle reflex, puppies who are unable to stand and have a rigid extended posture, tremor (early on), cyanosis while feeding, smaller and lighter puppies, consolidated and hemorrhagic lungs and dilated esophagus. Age of onset from birth, with affected puppies exhibiting clinical signs 5 to 7 days after birth. The symptoms appear to cease when the animals are sleeping or are relaxed. Some of the abnormalities appear more severe in male puppies than in the female.
Published
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 43:184-9, 2011. Pubmed reference: 21420493. DOI: 10.1016/j.nbd.2011.03.010.
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