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Myotonia Congenita (Feline)

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Test Overview:

Myotonia Congenita (Feline) affects cats and is an inherited neurologic disorder that is caused by a mutation in the CLCN1 gene. The disorder is characterised by an inability for the muscles to relax following voluntary contraction. Cats who are affected by this disorder will show a restricted range of jaw motion, halitosis, drooling, gingivitis, enlarged and protruding tongue, lack of startle response, as well as stiff and short-strided gait. Genetic testing of the CLCN1 gene can determine whether or not a cat is a genetic carrier of Myotonia Congenita.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

CLCN1

Variant Detected:

c.1930+1G>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. 2014 Oct 30;9(10):e109926. doi: 10.1371/journal.pone.0109926. eCollection 2014. Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA. A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One. 2014 Oct 30;9(10):e109926. PubMed PMID: 25356766 PubMed: 25356766

Associated Breed(s):

All Breeds (Feline),
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