Description: Paroxysmal dyskinesias are a heterogeneous group of neurological diseases characterized by the sudden onset of involuntary abnormal movements, including a period of normal motor activity. Affected dogs show episodes of generalized ataxia with an unusual gait pattern (hypermetria), muscular tension (hypertonia) of all limbs, dystonia, and mild tremor caused by stress or arousal. Episodes can last from a few minutes to a few hours. Stress management, a specific diet (gluten-free, high-tryptophan-containing seafood) as well as pharmacological treatment with antiepileptics (carbonic anhydrase inhibitors such as acetazolamide or zonisamide) are possible to partially or completely suppress episodes.
Laboratory tests show mild lactic acidosis and lactaturia, slightly elevated serum creatine kinase (CK) levels, and hypoglycemia.
Inheritance: presumable autosomal dominant (still in research)
Mutation: c.1658G> A (p.Arg553Gln) in the PCK2 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Shetland Sheepdog
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