Congenital Dyserythropoietic Anemia and Polymyopathy
This condition is characterized by microcytosis (small red blood cells), hind leg weakness, and regurgitation. The hind leg muscles deteriorate and atrophy.
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Signs and symptoms
Affected dogs may have microcytosis (small red blood cells) found as an incidental finding on blood work for routine procedures. As the dog becomes an adult, periodic episodes of hind leg weakness and regurgitation secondary to megaesophagus (abnormally enlarged esophagus) may be seen.
Blood work changes can be found before a year of age. Other clinical signs develop in adulthood, with both littermates in the study presenting to specialists at five years of age. -
Diagnosis
This condition is diagnosed with physical and neurologic examinations, blood work, a bone marrow evaluation, radiographs, and muscle biopsy.
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Treatment
Symptomatic treatment for megaesophagus can be provided, including anti-nausea medications. Megaesophagus increases the risk of respiratory infections secondary to food aspiration. Antibiotics may be provided if this is suspected.
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What to do if your dog is at risk
Actions
- Follow your veterinarian's advice for managing megaesophagus. Hand feeding or elevated food dishes may help reduce the risk of secondary respiratory infections.
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Genetic Information
This variant was first described in the Labrador Retriever, although a similar condition was first described in the English Springer Spaniel. The affected ESS do not have the same variant.
This variant is inherited in an autosomal recessive manner, meaning a dog requires two copies of the variant to show signs of anemia and polymyopathy.
Gene names:
EHPB1L1 Exon 5 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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