Disease overview

Congenital Myasthenic Syndrome is a neuromuscular disease characterized by transient paralysis after exercise. Puppies will typically appear normal during play for about 30 minutes, and then progressively tire before collapsing. After rest, the dog will be back to normal. This is due to reduced synthesis of acetylcholine, a neurotransmitter that is necessary for the activation of muscles.

Gene name

CHRNE

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs typically appear after 5 to 30 minutes of activity or exercise. Affected puppies will play normally until they begin to take shorter strides and 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

Heideterrier,

Citations

Rinz CJ, Lennon VA, James F, Thoreson JB, Tsai KL, Starr-Moss AN, Humphries HD, Guo LT, Palmer AC, Clark LA, Shelton GD. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord. 2015 Dec;25(12):921-7. doi: 10.1016/j.nmd.2015.09.005. Epub 2015 Sep 8. PMID: 26429099.

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. 2017 Oct;48(5):625. doi: 10.1111/age.12558. Epub 2017 May 16. PMID: 28508416.

Disclaimer

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