Congenital Myasthenic Syndrome (CMS) - Golden Retriever

Congenital myasthenic syndrome (CMS) is an autosomal recessive disorder of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. The clinical signs in affected dogs usually begin at weaning with progressive muscular weakness and fatigue that is exacerbated by exercise. The pups occasionally have a burst of energy but shortly thereafter need to sit or lie down. The clinical improvement of affected pups can shortly be achieved with albuterol, but the symptoms eventually progress despite treatment and most cases require euthanasia.

Inheritance: autosomal recessive

Mutation: COLQ gene

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