Muscular dystrophy / Duchenne-type MD (DMD-related) - French Bulldog

What does this test examine?

This genetic test examines the DMD variant c.3371_3372insA in the French Bulldog. The test is used for Duchenne-type muscular dystrophy / MD. The condition is also known as DD-MD, X-linked muscular dystrophy, dystrophin-deficient muscular dystrophy and DMD.

What does this condition mean?

The DMD gene encodes dystrophin, a protein that stabilises muscle fibres during contraction. A disruptive DMD variant causes dystrophin deficiency, damaging muscle fibres and leading to progressive muscle weakness, abnormal gait, muscle atrophy and severe neuromuscular disease. In males, one variant copy on the X chromosome is enough to cause disease.

Practical value of this test

For French Bulldog breeders, this test is practically important because female carriers can appear healthy while producing affected males. The result enables targeted selection instead of relying only on family history.

• Shows clearly whether a dog is clear, carries the tested variant or is genetically affected.
• Supports targeted breeding plans and helps avoid matings with an increased risk of affected puppies.
• Helps breeders manage carriers or positive animals responsibly without unnecessarily losing valuable lines.
• Gives owners and veterinarians concrete genetic information when muscle weakness, delayed growth, abnormal gait or muscle atrophy occurs in a line.

Result and inheritance

This condition is inherited in an X-linked recessive manner. A dog with N/N or N/Y does not carry the variant. A female with N/insA is a carrier. A male with insA/Y or a female with insA/insA has the genotype that causes X-linked DMD muscular dystrophy.