Nemaline myopathy / congenital muscle disease (NEB-related) - American Bulldog

What does this test examine?

This genetic test analyses the NEB variant g.52734272G>T in the American Bulldog. The condition is known as nemaline myopathy, NEB-related nemaline myopathy, congenital myopathy or congenital muscle disease.

What does this condition mean?

Nemaline myopathy disrupts normal muscle fibre structure and function. Affected dogs can develop clear muscle weakness, reduced muscle mass, movement difficulties, rapid fatigue and abnormal posture.

Because the variant introduces a stop codon in NEB, the nebulin protein may not function properly. This makes the test important for lines in which the variant occurs or where related risk lines are present.

Inheritance and result

The trait is autosomal recessive. Clear dogs do not carry the variant, carriers have one copy and are important for breeding plans, and dogs with two copies are genetically affected for this form of nemaline myopathy.

Practical value of this test

• The result shows whether a dog is clear, carrier or genetically affected for the tested NEB variant.
• Breeders can identify carriers and avoid combinations that can produce affected puppies.
• The test supports preservation of genetic diversity because carriers can be used responsibly with clear partners.
• For owners and veterinarians, the result helps explain muscle weakness in a suitable breed and family context.