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Congenital Myasthenic Syndrome (Golden Retriever Type)

Congenital Myasthenic Syndrome (Golden Retriever Type) is a genetic neuromuscular disease in Golden Retrievers, presenting at 6-7 weeks of age with episodes of exercise-induced weakness and short-strided gait leading to collapse, and often results in euthanasia due to the lack of effective treatments and severe impact on quality of life.




Affected Genes: COLQ

Inheritance: Autosomal Recessive

Variant(canFam6):
chr23:27149905: G>A

Breed: Golden Retriever
Goldendoodle
Lab/Golden Cross
Service/Assistance Golden Retriever
Service/Assistance Lab/Golden Retriever cross

General Information: Congenital Myasthenic Syndrome (Golden Retriever Type) is a genetic neuromuscular disorder in Golden Retrievers, emerging at 6-7 weeks of age with episodes of exercise-induced weakness and short-strided gait leading to collapse. Affected dogs recover after rest and appear normal between episodes, but the condition progressively worsens over time. Treatments effective for the similar acquired myasthenia gravis are ineffective, often leading to euthanasia due to the severity of the disease and poor quality of life.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the COLQ gene can identify carriers of Congenital Myasthenic Syndrome (Golden Retriever Type). This disease is inherited in an autosomal recessive pattern, meaning a dog must inherit two copies of the mutated gene to be affected. Carrier dogs typically do not show symptoms but, if bred with another carrier, have a 25% chance of producing affected offspring and a 50% chance of producing carriers. To prevent the spread of the mutation and avoid affected pups, it is recommended to avoid breeding two carriers. Non-carrier dogs do not have an increased risk of producing affected offspring.

References:
Tsai KL, Vernau KM, Winger K, et al. Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med. 2020 34:258–265.