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Cerebral Dysfunction (CD) is a rare inherited neurological disorder identified in the Frisian Stabyhoun (Stabijhoun).
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Mutation | Unpublished |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | CD |
Información específica de la prueba
Cerebral Dysfunction (CD) is a rare inherited neurological disorder identified in the Frisian Stabyhoun (Stabijhoun). The disease-associated variant results in an altered dopamine transporter function, disrupting normal dopamine signaling and affecting several processes in the central nervous system.
Características clínicas
Clinical signs typically become apparent at around 4–6 weeks of age and include severe, progressive neurological and behavioral abnormalities. Affected puppies may exhibit excessive locomotor activity, repetitive and compulsive movements, walking in circles, walking backwards, moving repeatedly back and forth, and excessive sniffing.
Other signs may include depressed behavior, impaired awareness during episodes of hyperactivity, limb weakness and delayed learning. The excessive urge to move can interfere with normal eating, resulting in poor food intake and severe weight loss.
As the disease progresses, affected puppies may develop distress and vocalization, possibly associated with discomfort. No effective treatment is currently available, and affected dogs generally require euthanasia before reaching 4–5 months of age.
Información adicional
Referencias
Pubmed ID: Unpublished
Year published:
Omia ID:
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