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Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.3120delC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | DAMS |
Informations générales
Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs. The disorder causes muscle atrophy, anaemia, heart defects, and may result in the death of affected puppies. It is caused by a recessive mutation to the gene EHBP1L1, and is found in the English Springer Spaniel. A closely related variant of the disorder occurs in the Labrador Retriever.
Caractéristiques cliniques
Affected puppies may die at or around birth. Surviving affected dogs have stunted growth compared to healthy littermates, with less musculature, exercise intolerance and general weakness. Further symptoms can include vomiting, difficulty eating or drinking, chronic diarrhoea, and seizures. Euthanasia may be necessary due to poor quality of life.
Additional Information
Références
Pubmed ID: 36140701
Year published: 2022
Omia ID: 2564
Omia variant ID: