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Myotonia Congenita (MC, Fainting Goat) is a hereditary neuromuscular disorder that causes muscles to be unable to relax after contracting, which can result in rigid limbs and falling over after startling.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | A2 |
| Mutation | c.991G>C |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | MC |
Informations générales
Myotonia Congenita (MC, Fainting Goat) is a hereditary neuromuscular disorder that causes muscles to be unable to relax after contracting, which can result in rigid limbs and falling over after startling. In cats, myotonia can be caused by several different recessive mutations to the gene CLCN1. This test analyses the Variant 3 mutation, also designated as c.991G>C.
Caractéristiques cliniques
Symptoms of MC can include a short-strided gait, protruding tongue, drooling and prominent muscle growth on the neck and upper limbs. After startling, affected cats may fall over, stiff-limbed, and be unable to rise again for several seconds. Treatment with phenytoin has been documented to result in long-term improvement in symptoms in at least one case.
Additional Information
Références
Pubmed ID: 37668104
Year published: 2023
Omia ID: 698
Omia variant ID: