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Congenital Myasthenic Syndrome

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Test Overview:

Congenital Myasthenic Syndrome affects cats and is an inherited neurologic disorder that is caused by a mutation on the COLQ gene. Cats affected with this disorder begin to present clinical signs very early on in their life. These signs are associated with disruptions of the neurologic signals to their muscles, and include head bobbing, progressing weakness, limb tremors, abnormal gait, protrusion of shoulder blades, difficulties eating and swallowing from megaesophagus and rapid fatigue from exercise. As a result of their muscle weaknesses with swallowing, these affected cats have an increased risk of getting water or food in their lungs. This can result in potential life-threatening pneumonia or choking. A study of Devon Rex and Sphynx cats showed that around 2% of the Devon Rex cats were found to be a carrier of the COLQ gene mutation, whereas less than 1% of the Sphynx cats were carriers.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

COLQ

Variant Detected:

c.1190G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Abitbol M, Hitte C, Boss\u00e9 P, Blanchard-Gutton N, Thomas A, Martignat L, Blot S, Tiret L. A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One. 2015 Sep 1;10(9):e0137019. PubMed PMID: 26327126 PubMed: 26327126 Gandolfi B, Grahn RA, Creighton EK, Williams DC, Dickinson PJ, Sturges BK, Guo LT, Shelton GD, Leegwater PA, Longeri M, Malik R, Lyons LA. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet. 2015 Dec;46(6):711-5. PubMed PMID: 26374066 PubMed: 26374066

Associated Breed(s):

Devon Rex, Elf Cat, Sphynx,
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