Congenital myasthenic syndrome (CMS)

LABOKLIN Service ID: 8206

The congenital myasthenic syndrome (CMS) is caused by a mutation in the COLQ gene in Labrador Retrievers, while in Jack Russell Terriers a mutation in the CHRNE gene is responsible. A genetic defect in the CHAT gene is the cause in the Old Danish Pointer. Symptoms of the disease are most of all a generalized skeletal muscle weakness, which worsens especially after exercise, stress or excitement. Signs can already be seen at just two weeks of age. Mobility of all limbs is reduced, and the ability to bear the own body weight diminishes with time. In all limbs, spinal reflexes are reduced.

Method	sequencing
Breed list	Golden Retriever, Jack Russell Terrier, Labrador Retriever, Old Danish Pointing Dog, Parson Russell Terrier
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the samples in the lab