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

CHAT

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

Old Danish Pointing Dog

Citations

Proschowsky HF, Flagstad A, Cirera S, Joergensen CB, Fredholm M. Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J Hered. 2007;98(5):539-43. doi: 10.1093/jhered/esm026. Epub 2007 Jun 22. PMID: 17586598.

Disclaimer

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