Muscular Dystrophy-Dystroglycanopathy

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 includes a physical exam, genetic testing, blood work, and muscle biopsy with special staining.

Unfortunately, there is no treatment for this condition, and puppies are often euthanized at a young age.

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.

This variant was first described in the Labrador Retriever.

Penetrance: 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

LARGE1 Exon 11

Inheritance type

recessive

Clinical category

Muscular

Citations

1. Shelton et al 2021

• Labrador Retriever
• English Labrador Retriever