Myotonia Congenita – Schnauzer
Kodas: H738
Short description
In dogs affected with Myotonia Congenital (MC) part of the skeletal muscle chloride channels are unable to fully open.
General information
In dogs affected with Myotonia Congenital (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.
Specifications
| Breeds | |
|---|---|
| Gene | CLCN1 |
| Chromosome | 16 |
| Mutation | c.803C>T |
| 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: 10452529
Year published: 1999
Omia ID: 698
Omia variant ID:
Turnaround information
- 10 working days