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Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death.
Working days 11
Specifiche
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Year Published |
Informazioni generali
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination and ultimately death. This variant of the disease, found in the Norwegian Buhund, is caused by a recessive mutation to the gene KCNIP4.
Caratteristiche cliniche
Affected puppies begin displaying symptoms within the first 12 weeks of life. The main signs of the disorder are a broad stance, fine tremors of the head, ataxia (loss of coordination) of the body, absent menace response, and hypermetria (overextension of the limbs while stepping). The disease is slowly progressive, and euthanasia might be necessary on humane grounds.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 31999692
Omia ID: 2240