Startle Hyperekplexia (Wolfhound Type)

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Also known as hyperekplexia, this disorder is characterized by prominent startle responses triggered by noise or touch in puppies. Recognized genes are GLRA1, GLRB, SLC6A5, GPHN and ARHGEF9. All of the named genes play an important role in glycine neurotransmission.

Glycine is an amino acid with a principal function is as precursor to proteins and also as a building block to numerous natural products. It has an important role as an inhibitory neurotransmitter in the central nervous system, especially in the spinal cord, brainstem, and retina.

Affected puppies start to exhibit clinical signs 5 to 7 days after birth in form of extensor rigidity and tremor. The symptoms cease when the animals are sleeping or are relaxed. The puppies are unable to stand and show rigid extended posture in all four limbs typical for this disorder. While sucking or during tube feeding, cyanosis (purple coloration of skin due to lack of oxygen in the tissue) occurs. Affected puppies are smaller and weight less than their unaffected littermates. Tissue abnormalities appear as more severe in male puppies than in the female.


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


Solute carrier family 6 member 5 (SLC6A5) on Chromosome 21

Variant Detected:

Nucleotide Deletion CanFam 3.1 chr21:42583623-42587925del (4303 bp deletion)


Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gill, JL. et al. Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene. (2011) Neurobiology of Disease 43;184–189.

Associated Breed(s):

Irish Wolfhound, Mixed Breed,