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Laryngeal Paralysis (St Bernard/Leonberger Type)

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Test Overview:

Laryngeal Paralysis affects dogs and is an inherited neurological disease. Affected dogs typically present with difficulty breathing, often described as loud and harsh, difficulty swallowing, and changes in the dog’s vocalisations clinical signs, at less than 5 years of age. In severe cases, a dog’s mobility may be affected by an uncoordinated gate, stumbling and tripping, exercise intolerance and muscle deterioration. In some dogs, this condition may be managed with conservative measures such as changes in lifestyle while others require surgical treatment to reduce severe respiratory signs. This condition may result in emergent respiratory distress or aspiration pneumonia which can be fatal.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

CNTNAP1

Variant Detected:

chr9:20172413 (canFam4): C/T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the CNTNAP1 gene in dogs will reliably determine if a dog is a genetic carrier of Laryngeal Paralysis disease.

Research Citation(s):

Letko A, Minor KM, Friedenberg SG, Shelton GD, Salvador JP, Mandigers PJJ, Leegwater PAJ, Winkler PA, Petersen-Jones SM, Stanley BJ, Ekenstedt KJ, Johnson GS, Hansen L, Jagannathan V, Mickelson JR, Drögemüller C. A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. Genes (Basel). 2020 Nov 27;11(12):1426. [PubMed: 33261176]

Associated Breed(s):

Leonberger, Saint Bernard ,

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