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Polyneuropathy GJA9 (Leonberger/St Bernard Type)

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Description:

Also called Leonberger Polyneuropathy 2 (LPN2) is a form of neuropathy and differs from other form of polyneuropathy affecting Leonbergers by a causative mutation. Polyneuropathy is a term used for simultaneous malfunction of many peripheral nerves throughout body and in literally translation it means “many abnormalities of the nervous system”.

Affected Leonbergers show abnormal motor signs, such as weakness, hypotonia and muscle atrophy due to denervation. Other symptoms include laryngeal paralysis, a change in the bark, inspiratory stridor, and dyspnea.

The age on LPN onset is variable, from less than 1 year of age to 11 years of age. Dogs affected with an early onset of the disorder usually develop more severe symptoms and stages of the disorder.

Since Leonberger Polyneuropathy (LPN2) is a progressive disorder, owners in its beginning stages may not even notice the first symptoms, such as unbalanced walk. It is common that veterinarians are not able to recognize the disorder before the already progressed stages.

Category:

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

Gene:

GJA9

Variant Detected:

c.1107_1108delAG

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

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pubmed/28841859?dopt=Abstract

Associated Breed(s):

Bernardoodle, Leonberger, Saint Bernard ,

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