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Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) is also known as Neuronal Vacuolation and Spinocerebellar Degeneration (NCSD) in Rottweilers or Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV) in Black Russion Terriers.
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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 Laryngeal Paralysis and Polyneuropathy (JLPP) is also known as Neuronal Vacuolation and Spinocerebellar Degeneration (NCSD) in Rottweilers or Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV) in Black Russion Terriers.
JLPP is a severe neurological disorder that causes difficulty breathing and a loss of muscle strenght and coordination. This disorder is caused by a recessive mutation to the gene RAB3GAP1. This variant, is observed in the Black Russian Terrier and Rottweiler, a similar variant has been observed in the Alaskan Husky.
Caractéristiques cliniques
Clinical signs can appear very early - sometimes as young as 6–8 weeks, but typically by 3 months of age. Early symptoms include weakness in the hind legs, an uncoordinated or staggering gait (ataxia), and eye abnormalities such as cataracts, microphthalmia (abnormally small eyes), and involuntary eye movements (nystagmus). As the disease progresses, puppies develop laryngeal paralysis, which causes noisy or labored breathing (especially during exercise or excitement), changes in their bark, and increasing difficulty swallowing. Because the disorder affects the cerebellum, affected dogs may also have altered vocalization and progressive problems with both breathing and swallowing, greatly increasing the risk of choking and aspiration pneumonia.
Most affected puppies show symptoms before 6 months of age and rarely live beyond 1 year. Since there is no effective treatment and quality of life declines rapidly, most dogs are either euthanized on humane grounds or succumb to complications of laryngeal or esophageal paralysis within months of symptom onset.
Additional Information
Références
Pubmed ID: 26607784
Omia ID: 1970