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Juvenile-Onset Laryngeal Paralysis and Polyneuropathy (JLPP/POANV), is a severe neurological disorder that causes difficulty breathing and a loss of muscle coordination.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Juvenile-Onset Laryngeal Paralysis and Polyneuropathy (JLPP/POANV), is a severe neurological disorder that causes difficulty breathing and a loss of muscle coordination. This disorder is caused by a recessive mutation to the gene RAB3GAP1. This variant, observed in the Black Russian Terrier and Rottweiler, in the this variant also will be called neuronal vacuolation and spinocerebellar degeneration (NVSD). Similar variant has been observed in the Alaskan Husky.
Kliniske egenskaper
Clinical signs typically appear at around 3 months of age. Affected puppies develop laryngeal paralysis, causing noisy or difficult breathing (especially during exercise or excitement) and a change in bark. The disease progresses with limb weakness, ataxia (loss of coordination), and difficulty swallowing, which increases the risk of choking and aspiration pneumonia. Eye abnormalities such as microphthalmia (abnormally small eyes) and cataracts are also common. The condition is progressive, incurable, and affected dogs often face euthanasia on humane grounds due to declining quality of life, usually within months after symptom onset.
Tilleggsinformasjon
Referanser
Pubmed ID: 26607784
Omia ID: 1970