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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.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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.

Clinical features

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.

Additional information

References

Pubmed ID: 26607784

Omia ID: 1970

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2. Collect DNA sample

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3. Results

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