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K767

Spinal Muscular Atrophy (SMA) is a neurological disease characterised by weakness and atrophy (degeneration) of muscles.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Spinal Muscular Atrophy (SMA) is a neurological disease characterised by weakness and atrophy (degeneration) of muscles. This variant of the disease is found in the Maine Coon, and is caused by a recessive mutation to the gene LIX1.

Clinical features

Signs include gait abnormalities and a muscle tremor primarily involving the hindquarters. By the age of 5 months, muscular atrophy is evident in all limbs. Cats usually show an abnormal gait, with wide-placed forelimbs and a swaying pelvis.

Additional information

References

Pubmed ID: 16899656

Omia ID: 2389

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