Australian Labradoodle dystrophinopathy / Duchenne muscular dystrophy (DMD-related) - Australian Labradoodle

Dystrophinopathy in Australian Labradoodles

This genetic test detects the DMD c.2668C>T variant that causes X-linked dystrophinopathy in Australian Labradoodles. The condition is also described as Duchenne muscular dystrophy, DMD-related muscular dystrophy or muscular dystrophy due to dystrophin deficiency.

What does this mean for the dog?

Dystrophin is essential for stability of muscle fibres. Dogs with an affected genotype develop progressive muscle weakness, abnormal gait, reduced exercise tolerance and increased muscle damage markers. Because DMD is located on the X chromosome, male dogs are especially vulnerable when they inherit the variant.

Practical value of this test

• Identifies clear dogs, female carriers and genetically affected dogs.
• Helps prevent carrier females from producing affected male puppies.
• Supports deliberate breeding selection in Australian Labradoodle lines.

Inheritance

This variant follows an X-linked recessive inheritance pattern. Carrier females can pass the variant to sons and daughters; males with the variant develop the disease.