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Spongy Degeneration with Cerebellar Ataxia is a severe neurological disorder that causes degeneration of the cerebellum and brain stem.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
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 impaired eye coordination or difficulty stabilizing gaze after rapid head movements, 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.
Additional Information
Références
Pubmed ID: 27966545,28007838
Omia ID: 2089