Congenital myasthenic syndrome is a rare autosomal recessive disorder of neuromuscular junction resulting in structural or functional causes of fatigable muscle weakness that usually begins early in dog’s life. It is characterized by disturbance in neuromuscular transmission that triggers muscle contraction. The clinical signs typically occur at weaning and include general muscle weakness, lack of reflexes and lack of coordination. Treatment with anticholinesterase drug resulted in temporary improvement of muscle weakness, meanwhile the development of drug resistance necessitated euthanasia due to deterioration of the disease.

Inheritance: autosomal recessive - read more

Mutation: CHRNE 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.

Disease control: read more

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