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Spongy Degeneration with Cerebellar Ataxia (SDCA1) is a severe neurological disorder that causes degeneration of the cerebellum and brain stem.
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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
Spongy Degeneration with Cerebellar Ataxia (SDCA1) is a severe neurological disorder that causes degeneration of the cerebellum and brain stem. The disease is progressive and ultimately requires euthanasia. It is caused by a recessive mutation to the gene KCNJ10. The variant of the disease analyzed in this test occurs in the Belgian Malinois, and similar variants have been observed in the Jack Russell Terrier and Parson Russel Terrier.
Clinical features
Affected puppies present initial symptoms of SDCA1 between 4 to 9 weeks of age. The primary symptom is ataxia (loss of coordination), with a wide-limbed gait, staggering, trembling and loss of balance. Other symptoms can include lower eyeball coordination after fast head movement, muscle spasms following exercise or stress, and seizures. As symptoms progress, euthanasia is typically required by 17 weeks of age.
Additional information
References
Pubmed ID: 27966545,28007838
Omia ID: 2089
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