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.Uncover health risks with Embark
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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
- Talk to your vet about your dog’s congenital dyserythropoietic anemia and polymyopathy result so you can discuss monitoring and supportive care.
- If your dog has trouble swallowing or keeping food down, hand feeding, using elevated food dishes, or feeding in a Bailey chair can help reduce the risk of aspiration.
- Offer smaller, more frequent meals and watch for coughing or regurgitation, which may indicate complications such as secondary respiratory infection.
- Keep your dog’s environment as calm and stress-free as possible, and provide soft bedding and gentle exercise to support their comfort and mobility.
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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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