Paroxysmal Dyskinesia (PD) – Irish Soft Coated Wheaten Terrier
Kodas: H634
Short description
Paroxysmal Dyskinesia (PxD) is a neurological condition that results in episodes of convulsions.
General information
Paroxysmal Dyskinesia (PxD) is a neurological condition that results in episodes of convulsions. The form of the disorder analysed in this test, found in the Soft-Coated Wheaten Terrier, is caused by a recessive mutation to the gene PIGN.
Specifications
| Breeds | |
|---|---|
| Gene | PIGN |
| Chromosome | 1 |
| Mutation | c.398C>T |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Onset of PxD convulsive episodes in the SCWT occurs at about 2 years of age. The convulsions mainly affect the hind limbs, which rapidly flex and extend. Episodes can vary between minutes and hours in length, and can occur anywhere between multiple times a day, and once every few days. They may be triggered by stress, excitement or noise, but exact triggers are unclear. In some cases, symptoms can increase in severity until euthanasia on humane grounds is desirable.
References
Pubmed ID: 27891564
Year published: 2016
Omia ID: 2084
Omia variant ID:
Turnaround information
- 10 working days