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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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Specificaties
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Algemene informatie
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.
Klinische eigenschappen
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.
Extra informatie
Referenties
Pubmed ID: 37761886
Omia ID: 625