Disease overview

Congenital Myasthenic Syndrome Is a neuromuscular disease characterized by transient paralysis after exercise. Puppies will typically appear normal during play for around 30 minutes, but then progressively tire to the point of collapse. After rest, the dog will be back to normal. This form of the condition is due to a genetic mutation that affects an enzyme that encodes the termination of skeletal muscle contractions.

Gene name

COLQ

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include generalized muscle weakness. Affected puppies will play normally and begin to take shorter strides before all four limbs become weak (tetraparesis). The dog will eventually collapse. After rest, signs will disappear only to reappear if activity is repeated.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Laboratory tests and/or a neurological exam may be conducted. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

,

Citations

Tsai KL, Vernau KM, Winger K, Zwueste DM, Sturges BK, Knipe M, Williams DC, Anderson KJ, Evans JM, Guo LT, Clark LA, Shelton GD. Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. J Vet Intern Med. 2020 Jan;34(1):258-265. doi: 10.1111/jvim.15667. Epub 2019 Nov 26. PMID: 31769119; PMCID: PMC6979411.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.