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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.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.831dupC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 37023257
Year published: 2023
Omia ID: 2663
Omia variant ID: