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Juvenile Paroxysmal Dyskinesia

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Test Overview:

Juvenile Paroxysmal Dyskinesia affects dogs and is a rare movement disorder. It is characterised by abnormal and involuntary movement and often occurs in younger dogs.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

PIGN

Variant Detected:

c.398C>T

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the SOD1 gene will reliably determine if a dog is a genetic carrier of Juvenile Paroxysmal Dyskinesia.

Research Citation(s):

Kolicheski, A.L., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Kinoshita, T., Murakami, Y., O'Brien, D.P. : A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics :, 2016. Pubmed reference: 27891564

Associated Breed(s):

Mixed Breed,
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