In August 2022, a genetic mutation was identified that causes Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) in English Springer Spaniels after looking at several studies that were conducted with ESSs involving affected and non-affected dogs. DAMS is inherited through an autosomal recessive trait affecting both males and females when genes from both parents have been inherited.
DAMS is a disease that is noticed whilst a dog is a puppy, and progressively gets worse affecting the dog's quality of life.
Typical symptoms fall into two main categories:
Dyserythropoiesis: Red Blood cells do not develop properly resulting in anaemia, with too few and small red blood cells, containing less haemoglobin than normal, affecting the ability to bind and transport oxygen. The bone marrow then increases production and sends out immature red blood cells that have a poorer ability to transport oxygen.
Polymyopathy: Several muscles will not work as they should. This may show as weakness, pain from the muscles, muscle wastage, limping gait, difficulty opening the mouth wide and chewing, and enlarged oesophagus (megaesophagus), causing difficulty swallowing, regurgitation and even life-threatening pneumonia.
Affected dogs begin to show symptoms shortly after birth and muscle wasting progresses over time until the dog can no longer walk, jump, eat, drink and move freely. It varies individually in how long it takes before the symptoms increase to such an extent that the dog can no longer live with the disease.
DNA testing is available to identify clear, carrier and affected dogs.
Gene Tested : EHBP1L1