Peer-reviewed veterinary case report
Dog with stiff gait diagnosed with hereditary myotonia mutation
By Eguchi, Gabriel Utida et al.·Published in Frontiers in veterinary science·2024·Faculty of Veterinary Medicine and Animal Science, Brazil·View original on PubMed →
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Original publication title: Case report: Acomplex 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 after being startled. During the examination, the vet noticed that the dog had muscle stiffness, especially when asked to jump, and also in his upper lip when touched. Tests confirmed that he had hereditary myotonia, a condition that affects muscle control. Genetic testing revealed specific mutations that caused this issue, and it was found that several of his siblings also carried the same mutation. While the dog has a genetic condition, the focus would be on managing his symptoms with the vet's guidance.
People also search for: dog stiff gait after startle · hereditary myotonia in dogs · dog muscle stiffness treatment
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 thegene 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 PubMed: https://pubmed.ncbi.nlm.nih.gov/39559538/