Alpha-Mannosidosis (AMD) – Doberman
Code: H279
Short description
Alpha-Mannosidosis (AMD) is a severe metabolic disease that affects the central nervous system, resulting in loss of coordination, tremors and ultimately death.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | MAN2B1 |
| Chromosome | 20 |
| Mutation | c.311A>G |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | AMD |
Clinical features
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.
References
Pubmed ID: 37761886
Year published: 2023
Omia ID: 625
Omia variant ID:
Turnaround information
- 15 working days