Quick Summary
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Phenotype: Congenital myasthenic syndrome (CMS) causes a congenital muscle weakness in Devon Rex and Sphynx breed cats. Moderate to severely affected cats show evidence of generalized muscle weakness, particularly following exertion, stress, or excitement. Affected cats frequently adopt a characteristic “dog-begging” or “chipmunk” position, usually with their front legs resting on a convenient object. Signs of the disease can be observed as early as of 3 weeks of age and progress slowly but occasionally do become static.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal/Unaffected, CMS = Congenital myasthenic syndrome
Breeds appropriate for testing: Devon Rex, Sphynx
Explanation of Results:
- Cats with N/N genotype will not have this congenital myasthenic syndrome. They cannot transmit this CMS variant to their offspring.
- Cats with N/CMS genotype will not have this congenital myasthenic syndrome, but are carriers. They will transmit this CMS variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% congenital myasthenic syndrome-affected kittens.
- Cats with CMS/CMS genotype will have congenital myasthenic syndrome, a progressive condition that can be fatal.
Sample Collection:
Cat DNA tests are carried out using cells collected from your cat's cheeks and gums using household cotton swabs.
The cat DNA submission form with instructions, pricing, and a place to tape the cotton swabs can be printed from your home computer after signing up for a MyVGL account and placing an order. Test kits are not mailed.
Step-By-Step Instructions:
1.
Purchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)
2.
Use both ends of the two cotton swabs for a total of four swabs.
3.
Collect the DNA sample by swabbing the cheek and gums of the cat.
4.
After swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.
A mutation that causes a congenital muscle weakness in Devon Rex and Sphynx breed cats, initially reported as “Spasticity”, has been identified in the gene COLQ. The mutation results in a congenital myasthenic syndrome (CMS) similar to CMS in humans. The disease is inherited in an autosomal recessive fashion thus two copies of the mutation are necessary to observe the disease and both males and females are equally affected. Cats with a single copy are unaffected but are carriers.
Moderate to severely affected cats show evidence of generalized muscle weakness, particularly following exertion, stress, or excitement. Affected cats frequently adopt a characteristic “dog-begging” or “chipmunk” position, usually with their front legs resting on a convenient object. Cats with CMS generally succumb to the disease by asphyxiation due to choking on food or aspiration pneumonia by two years of age. Signs of the disease can be observed as early as of 3 weeks of age and progress slowly but occasionally do become static.
The disease was first described in the UK in 1989 with detailed presentations from Australia in 1993. Affected cats have been identified in the USA and more recently across Europe. Breeding two carrier cats is predicted to produce 25% affected offspring.
The mutation causing Sphynx and Devon Rex Congenital Myasthenic Syndrome was discovered by a world-wide research team of geneticists and neurologists from the University of Missouri, the University of California, Davis, the University of California, San Diego, the University of Sydney, and the University of Milan.
Acknowledgements
We appreciate the assistance of Nicholas Gustafson, the strong and long-standing dedication of cat breeders, Sybil Drummond and Pam Dowlings, Paolo Valiati, and the Italian Feline Biobank-Vetogene.
Research Funding
Funding was provided by the National Center for Research Resources R24 RR016094, the Winn Feline Foundation (W10 -014 , W11-041, MT13-010), the Phyllis and George Miller Trust (MT08-015), the University of California, Davis, Center for Companion Animal Health (2008-36-F, 2008-06-F) and the Cat Health Network (D12FE-510).