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
CHAT gene – Old Danish Pointing Dog
Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.
Disease control: read more
Affected breeds: Labrador retriever, Old Danish Pointing Dog
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.