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Cerebral Dysfunction (CD) is a rare inherited neurological disorder identified in the Frisian Stabyhoun (Stabijhoun).
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Mutation | Unpublished |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillon, Tube EDTA de sang, Tube héparine de sang, Paillette de semence, Tissu biologique – biopsie |
| Also known as | CD |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: Unpublished
Year published:
Omia ID:
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