Dyserythropoietic anemia and myopathy syndrome / DAMS (EHBP1L1-related) - English Springer Spaniel

What does this test assess?

This genetic test analyzes the EHBP1L1 variant c.3120delC for DAMS in the English Springer Spaniel. DAMS stands for dyserythropoietic anemia and myopathy syndrome and is also described as congenital dyserythropoietic anemia and polymyopathy or EHBP1L1-related DAMS.

What does DAMS mean for the dog?

DAMS is a serious inherited disorder affecting two systems at the same time: red blood cell development and normal skeletal muscle function. In the English Springer Spaniel, DAMS can involve abnormal red blood cell development, microcytic anemia, muscle atrophy, weakness, exercise intolerance, regurgitation due to megaesophagus, swallowing difficulty, jaw problems, cardiomyopathy and sometimes neonatal loss.

Because blood and muscle problems occur together, the clinical picture can be more than weakness or poor condition. The result helps identify a genetic cause in dogs with anemia, muscle loss, exercise intolerance, regurgitation, poor growth or neonatal loss.

Inheritance and result

The trait is inherited as an autosomal recessive condition. Dogs with two copies of the tested variant are expected to be affected. Carriers have one copy, usually look healthy and can still pass the variant on.

• Clear: the tested variant was not detected.
• Carrier: one copy of the variant was detected; this is mainly important for breeding plans.
• Affected: two copies of the variant were detected; this genotype causes DAMS for this variant.

When is testing useful?

Testing is useful before planning a mating, for dogs from lines where DAMS is known, for imported animals with unknown genetic status and when blood or muscle findings require a clear genetic explanation. A documented result makes selection easier and gives puppy buyers more confidence about the genetic status of breeding animals.

Practical value of this test

For breeders, this test is useful because carriers can look healthy and still pass the variant through a line. Testing breeding animals supports planned combinations, helps avoid carrier-to-carrier matings and strongly reduces the risk of affected puppies.

• Supports responsible breeding selection.
• Helps identify carriers before breeding.
• Provides clear genetic context for puppies or dogs with blood and muscle signs.
• Makes communication with buyers, veterinarians and breed clubs more concrete and transparent.