Paroxysmal Exercise-Induced Dyskinesia (PED) – Weimaraner
Code: H996
Short description
Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Paroxysmal Dystonia-Ataxia Syndrome and Paroxysmal Movement Disorder (PMD), is a disorder found in the Weimaraner, which can cause an abnormal gait, muscle contractions and possible collapse.
General information
Paroxysmal Exercise-Induced Dyskinesia (PED), also known as Paroxysmal Dystonia-Ataxia Syndrome and Paroxysmal Movement Disorder (PMD), is a disorder found in the Weimaraner, which can cause an abnormal gait, muscle contractions and possible collapse. It is caused by a recessive mutation to the gene TNR.
Specifications
| Breeds | |
|---|---|
| Gene | TNR |
| Chromosome | 7 |
| Mutation | c.831dupC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies begin displaying episodes of muscle contractions between 3 and 7 months of age. These episodes are characterized by an abnormal gait with hypermetria (overextending the limbs while stepping), a bowed back and low-held head, possible anisocoria (pupils of different size), and ataxia (loss of coordination), which can lead to collapse. These episodes can last between 5 and 15 minutes, and may be triggered by exercise or excitement.
References
Pubmed ID: 37023257
Year published: 2023
Omia ID: 2663
Omia variant ID:
Turnaround information
- 15 working days