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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.
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.
Species
Breed
Type of Test
| 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. |
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
