Congenital myasthenic syndrome (CMS)

Symptoms of the disease are most of all a generalized skeletal muscle weakness, which worsens... more
Disease
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.
Breed
Golden Retriever, Jack Russell Terrier, Labrador Retriever, Old Danish Pointing Dog, Parson Russell Terrier
Heredity
autosomal recessive
Test duration
1-2 weeks after arrival of the samples in the lab
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