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Cerebellar Ataxia (CA) is a hereditary neurological disorder affecting the cerebellum, the part of the brain responsible for coordination, balance, and fine motor control.
10 Arbeidsdager
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Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Mutation | unpublished |
| Mode of Inheritance | Automatisk resessiv |
| Organ | |
| Specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Also known as | CA |
Generell informasjon
Cerebellar Ataxia (CA) is a hereditary neurological disorder affecting the cerebellum, the part of the brain responsible for coordination, balance, and fine motor control. In Flat-Coated Retrievers, the condition is associated with a genetic variant that disrupts normal neuronal function within the cerebellum, leading to impaired signal transmission between nerve cells. As a result, affected dogs progressively lose the ability to coordinate voluntary movements. The disorder is inherited in an autosomal recessive manner, meaning dogs must inherit two copies of the variant to develop clinical signs. Onset typically occurs at a young age, and the disease is progressive over time.
Kliniske egenskaper
Affected dogs show loss of coordination (ataxia), an unsteady or “drunken” gait and head tremors. Dogs may stumble, fall frequently, have difficulty navigating stairs, or struggle with precise movements such as jumping or turning. Clinical signs are typically observed in young puppies, often within the first months of life and gradually worsen as the disease progresses.
Tilleggsinformasjon
Referanser
Pubmed ID: University of Utrecht
Year published:
Omia ID:
Omia variant ID: