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Spongy Degeneration with Cerebellar Ataxia is a severe neurological disorder that causes degeneration of the cerebellum and brain stem.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Spongy Degeneration with Cerebellar Ataxia is a severe neurological disorder that causes degeneration of the cerebellum and brain stem. The disease is progressive and ultimately requires euthanasia. This variant of the disease, known as SDCA1, is caused by a recessive mutation to the gene KCNJ10.
The variant of the disease analysed in this test occurs in the Belgian Malinois, and similar variants have been observed in the Jack Russell Terrier and Parson Russel Terrier.
Caratteristiche cliniche
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 on humane grounds is typically elected for by the age of 17 weeks.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 27966545,28007838
Omia ID: 2089
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