Myotonia Congenita – Labrador Retriever
Kodas: H690
Short description
Myotonia is a neuromuscular disorder that causes muscle stiffness and difficulty flexing or moving.
General information
Myotonia is a neuromuscular disorder that causes muscle stiffness and difficulty flexing or moving. It is caused by a recessive mutation to the gene CLCN1.
This variant of the disorder is found in the Labrador Retriever. Other variants occur in the Miniature Schnauzer, Border Collie, Australian Cattle Dog and the American Bulldog.
Specifications
| Breeds | |
|---|---|
| Gene | CLCN1 |
| Chromosome | 16 |
| Mutation | c.2275A>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies present within the first weeks of life with a stiff-legged "robotic" gait and stance, as well as difficulty swallowing and sometimes breathing. The muscle stiffness decreases with prolonged continuous activity (called the "warm-up effect"). However, excitement and active play can worsen symptoms and sometimes cause a brief, stiff-legged collapse.
References
Pubmed ID: 29934119
Year published: 2018
Omia ID: 698
Omia variant ID:
Turnaround information
- 10 working days