Myotonia Congenita – Australian Cattle Dog and Border Collie
Kodas: H498
Short description
In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open.
General information
In dogs affected with Myotonia Congenita (MC) part of the skeletal muscle chloride channels are unable to fully open. The result is a delay in skeletal muscle relaxation, frequent contraction and muscle hypertrophy.
This variant of the disorder is caused by a recessive mutation to the gene CLCN1. It is found in the Australian Cattle Dog and the Border Collie.
Specifications
| Breeds | |
|---|---|
| Gene | CLCN1 |
| Chromosome | 16 |
| Mutation | c.2665insA |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Dogs suffering from Myotonia Congenital show a stiff gait especially at the onset of movement and during rapid changes in posture (turning quickly, falling). The symptoms may diminish with exercise. Other symptoms are severe skeletal muscle hypertrophy, difficulty rising, increased respiratory sounds, difficulty swallowing, and hypersalivation. The symptoms start at a young age.
References
Pubmed ID: 17552451
Year published: 2007
Omia ID: 698
Omia variant ID:
Turnaround information
- 10 working days