Spinal Muscular Atrophie – SMA
Kodas: K767
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 | |
|---|---|
| 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
- 10 working days