Paroxysmal dyskinesia in Soft Coated Wheaten Terriers

Paroxysmal dyskinesia is a genetic disorder characterized by episodes of involuntary movements. The involuntary movements are manifested as dystonia (altered muscle tone), while consciousness is retained. Episodes occur without previous exertion or fasting and can sometimes be triggered by excitement. They can last from a few minutes to several hours and can occur more than 10 times a day.

The disease is caused by a missense mutation c.398C>T in the PIGN gene.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

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