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Myotonia is a group muscle diseases that cause a disturbance in the development of chlorine channels.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Myotonia is a group muscle diseases that cause a disturbance in the development of chlorine channels. Due to poorly developed chlorine channels, an uncontrolled muscle tension arises which worsens in an excited state.
This variant of the disease, observed in the New Forest Pony, is caused by a recessive mutation to the gene CLCN1.
Clinical features
Most common clinical signs are the “recurrent episodes of recumbency and difficulty to rise due to muscle stiffness”. Occasionally, when the horse is stimulated, it "seemed hyperreactive and temporary protrusion of the third eyelid occurred due to retraction of the eye uni- or bilaterally".
Additional information
References
Pubmed ID: 22197188
Omia ID: 698