Description: Spinal muscular atrophy is a disease caused by the degeneration of spinal cord neurons that are responsible for muscle movements. Gradual loss of neuronal function in the first months of life leads to muscle weakness, which first becomes apparent 3-4 months after birth. Affected kittens develop an odd gait with a swaying movement of the hindquarters, sometimes transferring more weight to the toes than to the whole body. At the age of 5-6 months, the hindquarters weaken, and cats are uncertain when jumping. Affected cats do not feel pain, most live a normal life and the length of life is affected by the degree of disability. The disease is caused by a mutation in the LIX1 gene, specifically a 140 kb deletion, on the FCA1q chromosome. The expression of the LIX1 gene is concentrated in the central nervous system, primarily in the motor neurons of the spine, therefore their function is limited in the affected individuals.
Inheritance: autosomal recessive
Mutation: 140 kb deletion in LIX1 and LNPEP genes, part of feline chromosome 1 (FCA1q)
Sample: EDTA whole blood (1.0 ml). For official purposes, the confirmation of identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Maine coon