Congenital myasthenic syndrome (CMS)
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 number | 8206 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Age of onset | 4 weeks |
| Causality | causally |
| Gene | LOC608697 |
| Mutation | G-A |
| Literature | OMIA:001928-9615 |
Congenital myasthenic syndrome (CMS) - Labrador Retriever
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8206 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Age of onset | 6 weeks |
| Causality | causally |
| Gene | LOC608697 |
| Mutation | T-C |
| Literature | OMIA: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 number | 8206 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Age of onset | 2 weeks |
| Causality | causally |
| Gene | CHAT |
| Mutation | G-A |
| Literature | OMIA:002072-9615 |
Congenital myasthenic syndrome (CMS) - Russell Terrier
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8206 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | muscular |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | CHRNE |
| Mutation | INS |
| Literature | OMIA:000685-9615 |
