Test Detail

Feline hypokalemic periodic paralysis (Burmese)

Musculoesquelético · Cat

Hereditary muscle disorder of the Burmese cat (and related breeds) caused by a loss of function of the WNK4 gene. It produces recurrent episodes of muscle weakness and paralysis due to hypokalemia (low blood potassium), with recovery between episodes. It is not a hypercalcemic periodic paralysis and does not involve calcium abnormalities. The test detects the causative allele and identifies carriers; it is complementary to, not a substitute for, clinical examination and blood work.

Inheritance pattern	Autosomal recessive. Affected homozygotes present episodes of weakness and hypokalemia; heterozygotes are clinically normal carriers.
Gene / Mutation	WNK4 (WNK lysine deficient protein kinase 4), nonsense variant c.2899C>T (CAG>TAG) of the Burmese breed, which truncates the protein and removes its C-terminal domain. Gene located on feline chromosome E1 (NC_058381.1). OMIA:001759-9685.
Penetrance	In the families studied, homozygotes for the c.2899C>T variant develop the disease and no clinically normal homozygotes have been described; heterozygotes are asymptomatic carriers with normal potassium. Severity and frequency of episodes vary between individuals; limited data on quantitative penetrance.
Code	vecl
Turnaround time	10 days
Price	52,60 €

Incidence

Applicable breed: Burmese and related breeds. Periodic hypokalemia is a recognised disease of the breed, but no carrier frequencies have been published systematically (limited data).

Breeder management

- Test Burmese and related-breed breeding animals before mating\n- Do not cross two carriers: 25% affected homozygotes\n- A carrier may be crossed with a clear cat; test offspring intended for breeding\n- Exclude affected cats and known carriers from breeding\n- In carrier animals, avoid triggering factors (stress, prolonged fasting) and monitor serum potassium

Specialist notes

Differential diagnosis with other causes of episodic weakness and hypokalemia in the cat (cauda equina lesions, digestive or renal potassium losses, myasthenia, toxins). Hypokalemia during the episode together with the Burmese breed point towards it; confirmation is molecular. Treatment of crises includes potassium supplements and management of the trigger. Do not confuse with hypercalcemic forms, which do not exist in the cat.

References

1. Gandolfi B et al. 2012, First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats. PLoS One 7(12):e53173. PMID: 23285264. 2. Malik R et al. 2015, Periodic hypokalaemic polymyopathy in Burmese and closely related cats: a review including the latest genetic data. J Feline Med Surg 17(5):417-26. PMID: 25896241. OMIA:001759-9685.

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