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Spinal Muscular Atrophie – SMA

Code: K767

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

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.

Specifications

Breeds

Maine Coon
Gene

LIX1
Chromosome

A1
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

SMA

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.

References

Pubmed ID: 16899656

Year published: 2006

Omia ID: 2389

Omia variant ID:

Turnaround information

  • 15 working days