Paroxysmal Exercise-Induced Dyskinesia (PED) – Shetland Sheepdog
Kodas: H995
Short description
Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Hypertonic Paroxysmal Dyskinesia, is a neurological disorder that causes stiff limbs, loss of coordination and mild trembling.
General information
Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Hypertonic Paroxysmal Dyskinesia, is a neurological disorder that causes stiff limbs, loss of coordination and mild trembling. This variant of this disorder, caused by a dominant mutation to the gene PCK2, is found in the Shetland Sheepdog.
Specifications
| Breeds | |
|---|---|
| Gene | PCK2 |
| Chromosome | 8 |
| Mutation | c.1658G>A |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Dominant |
Clinical features
Affected dogs present with episodes of general ataxia (loss of coordination), muscular hypertonia (stiffness) of all four limbs and mild trembling. Episodes vary in length from minutes to hours, but tend to be more intense and of longer duration in the case of hot weather or physical activity. Particularly severe episodes may make the dog unable to walk for the duration.
References
Pubmed ID: 32660061
Year published: 2020
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Turnaround information
- 10 working days