Limb-girdle muscular dystrophy / LGMDR6 (SGCD-related) - Boston Terrier

What does this test analyse?

This genetic test analyses the SGCD c.534_535delGA deletion in the Boston Terrier. The condition is named limb-girdle muscular dystrophy, LGMD and LGMDR6.

SGCD encodes delta-sarcoglycan, part of the sarcoglycan complex that helps stabilise the muscle cell membrane.

What does this condition mean?

Affected puppies can develop marked muscle weakness and muscle loss, especially around the shoulders and hips. This can lead to stiff movement, difficulty with normal activity and an obvious muscle problem at a young age.

Inheritance and result

The trait is inherited as autosomal recessive. One copy makes a dog a carrier; two copies cause the genetically affected genotype.

Practical value of this test

• The test distinguishes clear dogs, carriers and genetically affected or risk-positive dogs.
• The result helps breeders plan matings and avoid risk pairings.
• Variant status can be documented clearly within lines, families and breeding advice.
• The result helps breeders identify carriers before a mating is planned.
• For a serious early-onset muscle disorder, avoiding carrier-to-carrier pairings is especially important.

LGMD is an umbrella term for several muscular dystrophies; this test specifically concerns the SGCD variant used in Boston Terriers.