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Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 20 |
| Mutation | c.311A>G |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | AMD |
Informations générales
Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death. The disorder is caused by a recessive mutation to the gene MAN2B1, and is found in the Doberman.
Caractéristiques cliniques
Affected dogs present with symptoms of neurological disease as early as 2 months after birth. Signs include clumsiness and falling over, ataxia (loss of coordination), strabismus (mis-aligned eyes) and nosebleeds. As the disease progresses, the affected dog may altered and possibly aggressive behaviour, compulsive circling, and apparent hallucinations. Euthanasia on humane grounds is likely to be necessary within a year of onset.
Additional Information
Références
Pubmed ID: 37761886
Year published: 2023
Omia ID: 625
Omia variant ID: