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Myotonia is a neuromuscular disorder that causes muscle stiffness and difficulty flexing or moving.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
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.
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.
Additional information
References
Pubmed ID: 29934119
Omia ID: 698
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