Test Detail

Hereditary syndrome combining anaemia due to defective erythropoiesis (dyserythropoietic anaemia) with a progressive muscle myopathy. It produces weakness, exercise intolerance and chronic non-regenerative anaemia. It has been described in the Labrador Retriever and the English Springer Spaniel, with the molecular basis resolved in 2022 (two breed-specific EHBP1L1 variants).

Limited data. Sporadic cases reported in specific lines of Labrador Retriever and English Springer Spaniel. No reliable population frequencies have been published.

- With litters having several affected puppies, do not repeat the parental mating\n- Identify carriers by pedigree in the absence of a direct molecular test\n- Avoid matings between animals with a family history of DAMS\n- Confirm the diagnosis with a complete blood count, muscle biochemistry (CK) and muscle biopsy

Distinguish from hereditary haemolytic anaemias (PK, PFK), from anaemias due to nutritional deficiency and from hereditary myopathies proper (canine muscular dystrophy, myotonic myopathy, Labrador myopathy). Muscle biopsy and bone marrow cytology guide the diagnosis. Without a molecular test, breeding advice is based on pedigree and phenotype.

1. Holland CT et al. (1991) Dyserythropoiesis, polymyopathy, and cardiac disease in three related English springer spaniels. J Vet Intern Med 5:151-159. PMID: 1920252
2. Shelton GD et al. (2022) An EHBP1L1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in Labrador retriever littermates. Genes (Basel) 13:1427. PMID: 36011338
3. Østergård Jensen S et al. (2022) EHBP1L1 frameshift deletion in English springer spaniel dogs with dyserythropoietic anemia and myopathy syndrome (DAMS) or neonatal losses. Genes (Basel) 13:1533. PMID: 36140701
4. OMIA:002564-9615 — Dyserythropoietic anemia and myopathy syndrome in Canis lupus familiaris (dog).