Inherited myopathy / IMGD / CNM2 (BIN1-related) - Great Dane

What does this test assess?

This genetic test analyzes the BIN1 variant c.786-2A>G for Inherited myopathy / IMGD / CNM2 in the Great Dane. The condition is also described as inherited myopathy of Great Danes, IMGD, centronuclear myopathy 2, CNM2, CNM and HMLR.

What does this condition mean?

This disorder affects skeletal muscle. Affected dogs can develop exercise intolerance, progressive muscle loss, muscle tremors, abnormal posture, weakness and sometimes breathing difficulty from a young age. The BIN1 gene is involved in normal muscle fibre function; the tested splice variant disrupts processing of the muscle-specific exon.

Inheritance and result

The trait is inherited as an autosomal recessive condition. Dogs with two copies of the tested variant are expected to be affected. Carriers have one copy, often look healthy and can still pass the variant on.

• Clear: the tested variant was not detected.
• Carrier: one copy of the variant was detected; this is mainly important for breeding plans.
• Affected: two copies of the variant were detected; this genotype causes this condition for this variant.

When is testing useful?

Testing is useful for Great Danes selected for breeding, young dogs from risk lines and dogs with muscle weakness or exercise problems that need a genetic explanation. Because carriers can look normal, DNA testing is the most direct way to make hidden risk in a breeding line visible.

Practical value of this test

The test makes hidden carrier status visible and helps breeders, veterinarians and owners make decisions based on concrete genetic information.

• Supports responsible selection of breeding combinations.
• Helps identify carriers before they are unknowingly used for breeding.
• Provides clear context for muscle loss, tremors or exercise intolerance.
• Helps reduce the risk of severely affected puppies in a targeted way.