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. -
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
- Keeping affected puppies comfortable and monitoring their quality of life are the only actions that can currently be taken.
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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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