Startle Disease – Miniature American Shepherd
Code: H594
Short description
Startle Disease, also known as hyperekplexia, is a neurological disorder.
General information
Startle Disease, also known as hyperekplexia, is a neurological disorder. 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 American Shepherd. It is caused by a recessive mutation to the gene GLRA1.
Specifications
| Breeds | |
|---|---|
| Gene | GLRA1 |
| Organ | Nervous System |
| Specimen | Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 4 |
| Year Published | 2023 |
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.
References
Pubmed ID: 37222814
Omia ID: 689
Turnaround information
- 15 working days