Myotonia congenita
Myotonia congenita
General description
Clinical signs of Myotonia congenita are hypertrophic skeletal muscles and difficulty in rising after a period of rest, a stiff, lanky gait which can be improved by training and difficulties in swallowing as well as excess salivation. All affected miniature Schnauzers exhibit an abnormal set of teeth and overbite, sometimes also abnormal barking.
Breeds
Australian Cattle Dog, Border Collie, Labrador Retriever, Miniature Schnauzer
Detailed description
This autosomal recessive inherited pathogenic condition affects skeletal muscle ion channels. Clinical signs are hypertrophic skeletal muscles and difficulty in rising after a period of rest. Also characteristic for this disorder is a stiff, lanky gait which can be improved by training and difficulties in swallowing as well as excess salivation. All affected miniature Schnauzers exhibit an abnormal set of teeth and overbite, sometimes also abnormal barking.
Myotonia congenita - Australian Cattle Dog, Border Collie
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8022 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLCN1 |
| Mutation | INS |
| Literature | OMIA:000698-9615 |
Myotonia congenita - Labrador Retriever
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8022 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLCN1 |
| Mutation | T-A |
| Literature | OMIA:000698-9615 |
Myotonia congenita - Miniature Schnauzer
The symptoms described in this breed can be found in the text above.
Order details
| Test number | 8022 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLCN1 |
| Mutation | G-A |
| Literature | OMIA:000698-9615 |
