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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.

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Caractéristiques

Breeds

,

Gene

Organ

specimen

Écouvillon, EDTA sanguin, Héparine sanguine, Sperme, Tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 26607784

Omia ID: 1970

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