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Congenital Myasthenic Syndrome (Golden Retriever Type)

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Test Overview:

Congenital Myasthenic Syndrome (Golden Retriever Type) is an inherited Neuromuscular Disease affecting Golden Retrievers. Affected dogs typically present around 6-7 weeks of age with exercise-induced weakness leading to collapse. During these episodes, dogs have a short-strided gait that progressively worsens until they collapse. Weakness resolves after rest and dogs are clinically normal between episodes. Dogs develop resistance to treatments used for a similar, acquired form of the disease known as myasthenia gravis, and are often humanely euthanized due to disease severity and poor quality of life.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

COLQ

Variant Detected:

chr23:27687716 (canFam4): G/A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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. https://doi.org/10.1111/jvim.15667

Associated Breed(s):

Goldador, Golden Retriever, Goldendoodle, Groodle,

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