Congenital myasthenic syndrome (CMS)

General description

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 and spinal reflexes of all limbs are reduced.

Breeds

Golden Retriever, Jack Russell Terrier, Labrador Retriever, Old Danish Pointing Dog, Parson Russell Terrier

Detailed description

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.

Congenital myasthenic syndrome (CMS) - Golden Retriever

The symptoms described in this breed can be found in the text above.

Order details
Test number8206
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmuscular
Inheritanceautosomal recessive
Age of onset4 weeks
Causalitycausally
GeneLOC608697
MutationG-A
LiteratureOMIA:001928-9615

Congenital myasthenic syndrome (CMS) - Labrador Retriever

The symptoms described in this breed can be found in the text above.

Order details
Test number8206
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmuscular
Inheritanceautosomal recessive
Age of onset6 weeks
Causalitycausally
GeneLOC608697
MutationT-C
LiteratureOMIA:001928-9615

Congenital myasthenic syndrome (CMS) - Old Danish Pointing Dog

The symptoms described in this breed can be found in the text above.

Order details
Test number8206
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmuscular
Inheritanceautosomal recessive
Age of onset2 weeks
Causalitycausally
GeneCHAT
MutationG-A
LiteratureOMIA:002072-9615

Congenital myasthenic syndrome (CMS) - Russell Terrier

The symptoms described in this breed can be found in the text above.

Order details
Test number8206
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmuscular
Inheritanceautosomal recessive
Age of onset5 weeks
Causalitycausally
GeneCHRNE
MutationINS
LiteratureOMIA:000685-9615