Muscular Dystrophy | Animal Genetics

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Muscular Dystrophy

Description:

GRMD is a mutation of the dystrophin gene that causes a deficiency of dystrophin proteins in Golden Retrievers. The lack of dystrophin proteins leads to the progressive degeneration of skeletal and cardiac muscles. The disease is similar to the human form of muscular dystrophy.

 

Symptoms appear relatively quickly, at about six weeks to two months of age. An affected dog will exhibit muscle weakness, difficulty standing or walking normally, and difficulty swallowing, Symptoms can range from relatively mild to severe, but GRMD is generally fatal at about 6 months of age.


The GRMD mutation is sex-linked and located on the X chromosome. So while both male and female dogs can be affected, GRMD is mostly a disease related to male Goldens. Females can be carriers of the mutation, however, and will not exhibit any symptoms. DNA testing to identify both male and female carriers is important to remove them from the breeding population.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.

Test Is Relevant to the Following Breeds:

Golden Retriever

Results:

Animal Genetics offers DNA testing for Muscular Dystrophy. The genetic test verifies the presence of the X-linked Muscular Dystrophy mutation and presents results as one of the following:

MD/MD Affected The dog carries two copies of the mutant gene and is homozygous for Muscular Dystrophy. The dog is affected by Muscular Dystrophy and will always pass a copy of the mutation to its offspring.
MD/n Gender-Specific Both the normal and mutant copies of the gene detected. Male dogs with one copy of the mutation are affected. Female dogs with one copy of the GRMD mutation are carriers.
n/n Clear Dog tested negative for the Muscular Dystrophy mutation and will not pass on the defective gene to its offspring.