Part of the official UK Kennel Club testing scheme in English Springer Spaniel.
Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) is an inherited disease affecting the English Springer Spaniel. Symptoms of this early onset condition include muscle spasm and tightening of jaw, difficulties in swallowing, muscle atrophy, and progressive weakness. Affected dogs exhibit reduced activity, exercise intolerance, and regurgitation from puppyhood.
Additional clinical signs may include difficulties in mouth movement, lapping water, as well as aspiration pneumonia, seizures, and chronic diarrhoea. From birth, affected puppies experience stunted growth and poor muscle development compared to their littermates. As they age, they face challenges in swallowing food and water, resulting in regurgitation due to megaesophagus, alongside muscle loss, heart disease, and anemia. Given the progressive nature of this disease and its impact on the quality of life, most dogs afflicted with DAMS are euthanized as young adults or in middle age.
The single base deletion in the gene called EHBP1L1 that causes Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel is autosomal recessive. This means that dogs that carry two copies of the mutation (homozygotes) will almost certainly develop DAMS during their lives. Dogs that carry a single copy of the mutation (also known as carriers or heterozygotes) will not develop DAMS as a result of the EHBP1L1 mutation, but they will pass the mutation onto about half of any offspring they have. Breeding dogs that will not develop DAMS should be the breeder’s priority, with a reduction in mutation frequency within the whole breed being the secondary, longer-term target.
Carriers can be bred from safely, provided they are mated to a dog that has also been tested and is clear of the EHBP1L1 mutation (i.e. carry no copies of the mutation). If a carrier is mated to a clear dog approximately half of the resulting puppies will also be carriers, so should be tested themselves prior to breeding. Breeding carriers to tested, clear dogs is safe, in terms of avoiding dogs affected with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS), and will help to maintain the genetic diversity of a breed. It is therefore encouraged, particularly in the first few generations following the availability of a new genetic test, so that other desirable characteristics and traits can be preserved before the frequency of the disease mutation within the breed is gradually reduced.