Hyperekplexia
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Hyperekplexia
OMIA
1594
Gene Name
SLC6A5
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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Irish Wolfhound