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Juvenile-Onset Laryngeal Paralysis and Polyneuropathy (JLPP), also called Warburg Micro Syndrome, is a severe neurological disorder that causes difficulty breathing and a loss of muscle coordination.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Juvenile-Onset Laryngeal Paralysis and Polyneuropathy (JLPP), also called Warburg Micro Syndrome, is a severe neurological disorder that causes difficulty breathing and a loss of muscle coordination. This variant, observed in the Black Russian Terrier and Rottweiler, is caused by a recessive mutation to the gene RAB3GAP1. A similar variant has been observed in the Alaskan Husky.
Caratteristiche cliniche
Affected dogs present at approximately 3 months of age with paralysis of the larynx and respiratory distress. Further symptoms can include micropthalmia (abnormally small eyeballs), cataracts, limb weakness, ataxia (loss of coordination) and difficulty swallowing. Due to poor quality of life, euthanasia on humane grounds may be necessary.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 26607784
Omia ID: 1970
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