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H594

Hyperekplexia, also known as Startle Disease, is a neurological disorder.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Hyperekplexia, also known as Startle Disease, is a neurological disorder. As the name implies, its main symptom is an exaggerated startle response that can result in episodes of sudden stiffness and collapse. The specific variant of the disorder analysed in this test is found in the Miniature Australian Shepherd. It is caused by a recessive mutation to the gene GLRA1.

Clinical features

Within the first weeks of life, affected puppies are prone to collapsing when startled by certain noises or sights, or if otherwise excited. Collapse episodes tend to last about ten seconds, during which the dog remains conscious but displays stiff limbs (particularly the hind legs), as well as difficulty breathing. At their most severe, these episodes can be life-threatening, and euthanasia on humane grounds may be considered.

Additional information

References

Pubmed ID: 37222814

Omia ID: 689

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