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Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) (English Springer Spaniel Type)

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Test Overview:

Dyserythropoietic Anemia is characterised by red blood cell development defect in the bone marrow. Myopathy Syndrome is a disorder that results from a defect in muscle fibres. Symptoms can include muscle weakness, regurgitation, muscle pain, difficulties chewing and swallowing, heart enlargement, anaemia and fatigue. Further disease complications may consists of diarrhea, pneumonia, seizures and possibly death. In other cases, euthanasia is necessary due to poor health.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

EHBP1L1

Variant Detected:

c.3120delC

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Dyserythropoietic Anemia and Myopathy Syndrome (DAMS).

Research Citation(s):

Østergard Jensen, S., Christen, M., Rondahl, V., Holland, C.T., Jagannathan, V., Leeb, T., Giger, U. : EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses. Genes (Basel) 13:1533, 2022. Pubmed reference: 36140701

Associated Breed(s):

English Springer Spaniel,

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