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Juvenile Laryngeal Paralysis and Polyneuropathy (Black Russian Terrier Type)

Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) in Black Russian Terriers is a fatal inherited disease characterized by early onset respiratory, neurological, and muscular symptoms leading to severe disability and early death

Affected Genes: RAB3GAP1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr19:38148576: 1 bp deletion C

Breed: Black Russian Terrier
Rottweiler

General Information: Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) in Black Russian Terriers presents as a severe, progressive neurological disorder that becomes apparent within the first few months of life. Affected dogs exhibit symptoms related to nervous system dysfunction, including distinctive loud, raspy breathing caused by vocal cord paralysis, respiratory distress, and hindlimb weakness. Additional neurological signs include reduced or absent reflexes, diminished muscle tone, loss of limb sensation, and an abnormal gait. These symptoms may be compounded by eye abnormalities such as persistent pupillary membranes and early-onset cataracts, along with secondary health issues like aspiration pneumonia and reduced gastrointestinal motility. The disease's relentless progression usually necessitates humane euthanasia of affected dogs by the age of six months.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the RAB3GAP1 gene is crucial for identifying carriers of Juvenile Laryngeal Paralysis and Polyneuropathy (JLPP) in Black Russian Terriers, as this condition is inherited in an autosomal recessive pattern. To manifest the disease, dogs must inherit two copies of the mutated gene, one from each parent. Dogs that are carriers possess one copy of the gene and do not show symptoms but have a 50% chance of passing the mutation to their offspring when bred. Breeding two carriers significantly increases the risk, with a 25% chance of producing affected puppies and another 50% chance of producing carriers. Responsible breeding practices necessitate genetic testing to prevent the perpetuation of this debilitating condition, with recommendations against breeding carriers together to eliminate the mutation from the breed and maintain the overall health and viability of future generations.

References:
Mhlanga-Mutangaduraa T, Johnson GS, Schnabel RD, Taylor JF, Johnson GC, Katz ML , Shelton GD, Lever TE, Giulianog E, Granger N, Shomperg J, O’Brien DP. A mutation in the Warburg syndrome gene RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs. Neurobiol Dis. 2016 86:75-85.