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Paroxysmal Dyskinesia

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Paroxysmal Dyskinesia
Mutation
c.398C>T
Test Type
Genetic Disease/Disorder
Details
Paroxysmal Dyskinesia can sometimes appear to be simmilar to epilepsy. This is due to symptoms including seizure-type movement, full collapse, muscle spasms (though remaining fully conscious and responsive), or relatively mild wobbling and shaking. Frequency, as well as severity/duration of episodes, can vary considerably. Once the episode is over the dog reverts back to normal almost immediately. No apparent signs of disease between episodes, and dogs don't normally suffer a loss of bladder/bowel control after an episode. Age of onset ranges from 2 months to 5 years.
Details 2
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals... Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. (Richter et al, 2015)
Published
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. DOI: 10.1007/s10048-016-0502-4.
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