Peer-reviewed veterinary case report
Pony very stiff and unable to stand - could it be myotonia?
By Wijnberg, Inge D et al.·Published in Neuromuscular disorders : NMD·2012·Department of Equine Sciences, Netherlands·View original on PubMed →
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Original publication title: A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
- Species:
- horse
Plain-English summary
A 7-month-old New Forest pony was brought in because it was having episodes of stiffness and difficulty getting up. Tests showed that the pony had a genetic mutation linked to congenital myotonia, a condition that affects muscle function. This mutation was found to be inherited from both parents, suggesting it runs in the family. Understanding this genetic issue can help owners manage the pony's symptoms and provide appropriate care.
People also search for: New Forest pony stiffness · congenital myotonia in ponies · pony muscle problems treatment
Abstract
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/22197188/