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H186

Startle disease in dogs, also known as hyperekplexia, is a rare neurological condition that causes affected dogs to have exaggerated, sudden responses to stimuli.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Startle disease in dogs, also known as hyperekplexia, is a rare neurological condition that causes affected dogs to have exaggerated, sudden responses to stimuli. An autosomal recessive mutation that can lead to startle disease is found in the Solute Carrier Family 6 Member 5 (SLC6A5) gene. This gene encodes the glycine transporter 2 (GlyT2), which is responsible for the reuptake of glycine. When this reuptake is impaired the normal inhibitory signalling in the spinal cord and brainstem is disrupted. This leads to an extreme sensitivity to environmental stimuli and overactivation of motor neurons, causing the excessive startle responses and muscle rigidity characteristic of startle disease. The mutation in the SLC6A5 gene has been observed in the Old English Sheepdog.

Clinical features

Dogs with startle disease exhibit extreme sensitivity to touch or noise, reacting strongly to everyday stimuli. After being startled, they may display stiffness, become rigid or frozen for short periods. Additionally, the neurological effects of the condition can cause difficulty with movement, leading to problems with walking or coordination.

Additional information

References

Pubmed ID: 40012122

Omia ID: 1594

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