Testing of dogs: Myasthenic syndrome in Heideterriers

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT

Myasthenic syndrome in Heideterriers

Congenital myasthenic syndrome is an inherited disease that affects neuromuscular transmission. It is manifested by weakness of the skeletal muscles after exercise. In Heideterriers, the first signs, such as the absence of reflexes and poor coordination of the forelimbs, are evident in puppies as young as one week old. However, the disease continues to progress rapidly.

The disease in the Heideterrier is caused by a homozygous single nucleotide insertion c.1436_1437insG in the CHRNE gene, which encodes the epsilon subunit of the acetylcholine receptor on the neuromuscular disc.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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Reference:

Herder, V., Ciurkiewicz, M., Baumgärtner, W., Jagannathan, V., Leeb, T. : Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Anim Genet 48:625, 2017. Pubmed reference: 28508416

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Usual turnaround time: 10 business days
1 test price: 56.00 $ without VAT