Spinal muscular atrophy (SMA) – Maine Coon

21 June 2022

Spinal muscular atrophy is a Maine Coon hereditary neuromuscular disease characterized by muscle wasting as a result of degeneration of motor neurons in the spinal cord.

In Maine Coons, the first signs of spinal muscular appear, as a rule, at the age of twelve weeks. Observed symptoms: lethargy, tremor, muscle weakness. Progressive atrophy of the proximal muscles leads to the fact that from the age of five to six months the kitten’s gait becomes unstable and awkward, it is difficult for the animal to jump to a height and jump down. In advanced stages, the distal muscles are also affected.

There is no cure for this disease.

An autosomal recessive type of inheritance has been described for the spinal muscular Maine Coon (inheritance of a disease in which a mutant allele localized in the autosome must be inherited from both parents).

Genotype options:

N/N – Homozygous for alleles of the normal type (the LIX1-LNPEP locus does not contain a deletion).

N/lix1-lnpep – Heterozygous for alleles of the mutant type (one of the copies of the LIX1-LNPEP locus contains a deletion).

lix1-lnpep/lix1-lnpep – Homozygous for alleles of the mutant type (both copies of the LIX1-LNPEP locus contain a deletion).

This test detects a deletion at the LIX1-LNPEP locus associated with autosomal recessive spinal muscular atrophy in domestic cats, as described by Fyfe et al., 2006.

Animals in which both copies of the LIX1-LNPEP locus contain a deletion are susceptible to the development of spinal muscular atrophy (SMA).

The presence of a deletion in only one of the two copies of the LIX1-LNPEP locus does not lead to the development of the disease.

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