Ullrich-type muscular dystrophy / MD (COL6A3-related) - American Staffordshire Terrier

What does this test examine?

This genetic test detects the COL6A3 c.6398del variant that causes Ullrich-type muscular dystrophy in the American Staffordshire Terrier. The condition is also known as Ullrich-type congenital muscular dystrophy, COL6A3-related muscular dystrophy and collagen VI-deficient myopathy.

What does this condition mean?

COL6A3 encodes part of collagen type VI, a protein important for support and stability of muscle tissue. Dogs with two copies of the tested variant develop a severe muscle disorder with progressive weakness, muscle wasting, joint contractures and abnormal posture or movement.

Inheritance and result

The trait is autosomal recessive. A dog with N/N does not carry the tested variant. A dog with N/del is a carrier and can pass the variant on. A dog with del/del has the genotype that causes this COL6A3-related muscular dystrophy.

Practical value of this test

This test gives breeders and owners clear information about a severe inherited muscle disease in the breed. It is especially valuable for breeding selection because carriers can look healthy while still passing the variant to offspring.

• Distinguishes clear dogs, carriers and genetically affected dogs.
• Supports mating choices that avoid affected puppies.
• Enables targeted screening in lines related to known carriers or affected dogs.
• Provides transparent inherited muscle-health information for breeders and buyers.