Muscular Dystrophy-Dystroglycanopathy
Muscular dystrophy-dystroglycanopathy is characterized by muscle weakness and loss with possible brain and heart abnormalities. Puppies with this condition have poor rates of growth and difficulty suckling or eating.
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Signs and symptoms
Affected puppies are smaller than their littermates and have a poor suckling reflex. They are noticeably weaker, and their stance tends to be bow-legged.
Signs develop shortly after birth. In the litter where the variant was discovered, the puppies were humanely euthanized between 2.5 and 6 weeks of age.Uncover health risks with Embark
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Diagnosis
Diagnosis includes a physical exam, genetic testing, blood work, and muscle biopsy with special staining.
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Treatment
Unfortunately, there is no treatment for this condition, and puppies are often euthanized at a young age.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s muscular dystrophy result so you can plan appropriate monitoring and care.
- Signs such as muscle weakness, stiffness, or difficulty walking may appear early in life and can progress over time.
- Keep your dog’s environment calm and free from slippery surfaces to help them move safely and prevent falls.
- As this condition can worsen gradually, gentle exercise, supportive care, and a predictable routine can help maintain your dog’s comfort and mobility.
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Genetic Information
This variant was first described in the Labrador Retriever.
This variant is inherited in an autosomal recessive manner, meaning that a dog requires two copies of the variant to show signs of muscular dystrophy-dystroglycanopathy.
Gene names:
LARGE1 Exon 11 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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