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Hypokalaemia Periodic Polymyopathy - Burmese

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Test Overview:

Hypokalemia, a subnormal serum potassium ion concentration ([K+]), most often occurs as a secondary problem but can occur as a primary problem, such as hypokalaemic periodic paralysis in humans, and as feline hypokalaemic periodic polymyopathy primarily in Burmese. The most characteristic clinical sign of hypokalemia in Burmese is a skeletal muscle weakness that is frequently episodic in nature, either generalized, or sometimes localized to the cervical and thoracic limb girdle muscles. Burmese hypokalemia is suspected to be a single locus autosomal recessive trait.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

WNK4

Variant Detected:

c.2899C>T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

PLoS One. 2012;7(12):e53173 Gandolfi B, Gruffydd-Jones TJ, Malik R, Cortes A, Jones BR, Helps CR, Prinzenberg EM, Erhardt G, Lyons LA. First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats. PLoS One. 2012;7(12):e53173. PubMed PMID: 23285264 PubMed: 23285264 Malik R, Musca FJ, Gunew MN, Menrath VH, Simpson C, Culvenor J, Grahn RA, Helps C, Lyons LA, Gandolfi B. Periodic hypokalaemic polymyopathy in Burmese and closely related cats: a review including the latest genetic data. J Feline Med Surg. 2015 May;17(5):417-26. PubMed PMID: 25896241 PubMed: 25896241

Associated Breed(s):

Asian, Australian Mist , Bombay, Burmese, Burmilla, Cornish Rex, Devon Rex, Singapura, Sphynx, Tonkinese,
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