Peer-reviewed veterinary case report
Dog with stiff gait diagnosed with hereditary myotonia mutation
By Gabriel Utida Eguchi et al.·Published in Frontiers in Veterinary Science·2024·Faculty of Veterinary Medicine and Animal Science, Federal University of Mato Grosso do Sul (UFMS), Campo Grande, MS, Brazil, CH·View original on DOAJ →
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Original publication title: Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia
- Species:
- dog
Plain-English summary
A 4-month-old male mixed-breed dog was brought to the vet because he had a stiff gait, especially after being startled. During the examination, the vet found that the dog had myotonia, which means his muscles were slow to relax after being used, particularly when he jumped or when his lip muscles were touched. Tests confirmed that he had a genetic mutation linked to hereditary myotonia. This mutation was found in his mother and most of his littermates, indicating it runs in the family. While the dog has this condition, specific treatments weren't mentioned in the study.
People also search for: dog stiff gait after startle · hereditary myotonia in dogs · genetic testing for dog muscle problems
Abstract
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myotonia of the upper lip muscles was observed upon manipulation. Hereditary myotonia was suspected, and electromyography confirmed the presence of myotonic potentials. Genetic testing of the myotonic patient identified a complex of mutations, including c.[1636_1639 delins AACGGG] and c.[1644 A>T], both located in exon 15 of the CLCN1 gene leading to the formation of a premature stop codon. Genetic investigations of the mother and four littermates revealed that, except for one littermate who was wild type, all others carried a copy of the mutated gene. To the best of the authors' knowledge, these mutations have not been previously reported.
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Search related cases →Original publication on DOAJ: https://doi.org/10.3389/fvets.2024.1485454