Startle Disease – Old English Sheepdog
Kodas: H186
Short description
Startle disease in dogs, also known as hyperekplexia, is a rare neurological condition that causes affected dogs to have exaggerated, sudden responses to stimuli.
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.
Specifications
| Breeds | |
|---|---|
| Gene | SLC6A5 |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 21 |
| Also known as | Hyperekplexia, SLC6A5-related |
| Year Published | 2025 |
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.
References
Pubmed ID: 40012122
Omia ID: 1594
Turnaround information
- 10 working days