Spinal Muscular Atrophy (SMA) in Maine Coon Cats

Quick Summary

Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs.

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Phenotype: Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs. Affected kittens first show signs of SMA at about 3-4 months of age.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal/Unaffected, S = Spinal muscular atrophy

Breeds appropriate for testing: Maine Coon

Explanation of Results:

  • Cats with N/N genotype will not have spinal muscular atrophy. They cannot transmit this spinal muscular atrophy variant to their offspring.
  • Cats with N/S genotype will not have spinal muscular atrophy, but are carriers. They will transmit this spinal muscular atrophy variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% spinal muscular atrophy-affected kittens.
  • Cats with S/S genotype will have spinal muscular atrophy, a non-fatal but disabling condition. 

Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Price

$44 one test per animal

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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.

Person looking at different brands of cotton swabs in a storePurchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)

 

2.

Label indicating both ends of the two cotton swabsUse both ends of the two cotton swabs for a total of four swabs.

 

3.

Demonstration of swabbing the inner cheek of a cat with a cotton swabCollect the DNA sample by swabbing the cheek and gums of the cat.

 

4.

Cotton swabs taped to bar-coded submission form for VGLAfter swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.

Additional Details

Spinal Muscular Atrophy (SMA) is a genetic disease seen in Maine Coon cats. The disease is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs. Affected kittens first show signs of SMA at about 3-4 months of age. The condition is neither painful nor fatal and affected cats can live a comfortable life indoors. The disease is inherited as an autosomal recessive, thus 2 copies of the mutation are required to produce the disease and both males and females are equally affected. SMA in Maine Coon cats is caused by a large deletion of chromosome 1.

Testing to identify both affected cats and carriers assists breeders to avoid future matings that can produce affected kittens.

Type of Sample
Cotton Swab

Species

Cat

Breed

Maine Coon
Type of Test
Health
Results Reported As
Test Result Spinal Muscular Atrophy Status
N/N No copies of SMA are present.
N/S

1 copy of SMA is present. Cat is normal but is a carrier. Breeding between carriers will be expected to produce 25% affected, 50% carriers and 25% normal kittens.
S/S

2 copies of SMA are present. Cat is affected.
References

Fyfe, J.C., Menotti-Raymond, M., David, V.A., Brichta, L., Schäffer, A.A., Agarwala, R., Murphy, W.J., Wedemeyer, W.J., Gregory, B.L., Buzzell, B.G., Drummond, M.C., Wirth, B., & O'Brien, S.J. (2006). An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research, 16(9), 1084-1090. doi: 10.1101/gr.5268806

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