Dyserythropoietic anaemia and myopathy (DAMS)
Dyserythropoietic anaemia and myopathy (DAMS)
General description
Mutations in the EHBP1L1 gene cause DAMS in the breeds Labrador Retriever and English Springer Spaniel. Clinical symptoms are muscle atrophy, pelvic limb weakness and regurgitation. English Springer Spaniels also show anaemia and cardiomyopathy. Despite the variable clinical symptoms both breeds showed similar changes in erythrocyte morphology and muscle histopathology.
Breeds
English Springer Spaniel, Labrador Retriever
Order details
| Test number | 8805 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | autosomal recessive |
Detailed description
A mutation in the EHBP1L1 gene was found to cause Dyserythropoietic anemia and myopathy (DAMS) in the breed Labrador Retriever. Clinical symptoms are muscle atrophy, pelvic limb weakness and regurgitation. Blood examination showed marked microcytosis, inappropriate metarubricytosis, erythrocyte abnormalities and mild anemia. Signs of myopathy including megaoesophagus were detected at approximately 5 years of age, but affected dogs showed a history of microcytosis and erythrocyte abnormalities.\nAnother variant in the EHBP1L1 gene was found to cause DAMS in the breed English Springer Spaniel. In this breed, the disease shows an early onset of anaemia, megaoesophagus, cardiomyopathy and generalized slowly progressive muscle atrophy.\nDespite the variable clinical symptoms both breeds showed similar changes in erythrocyte morphology and muscle histopathology.\n
