Congenital myasthenic syndrome (CMS) is a neuromuscular disorder characterized by severe generalized skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction. The disease usually occurs in animals between 6 to 12 weeks of age. In Old Danish Pointing Dog affected dogs are able to run normally for 5-30 minutes after which they take shorter and shorter strides and eventually fall down with flexed fore- and hind legs. After some minutes rest, they are able to walk and run again.

Inheritance: autosomal recessive - read more

Mutation: COLQ gene (Labrador retriever) and CHAT gene (Old Danish Pointing Dog)

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.