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Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 31 |
| Mutation | c.12delinsCAC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PD |
Informations générales
Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies. There is no effective treatment, and euthanasia is usually elected within three months of age. The disorder is caused by a recessive mutation to the SOD1 gene.
Caractéristiques cliniques
Affected puppies present with severe tetraparesis (weakening of all four limbs), cramping and dystonia (involuntary and often repetitive muscle contractions). The condition deteriorates over a matter of weeks, and euthanasia on humane grounds is typically necessary.
Additional Information
Références
Pubmed ID: 33677640
Year published: 2021
Omia ID: 2322
Omia variant ID: