Peer-reviewed veterinary case report
Cat with stiff limbs and muscle spasms treated for myotonia congenita
By Woelfel, Christian et al.·Published in Journal of veterinary internal medicine·2022·College of Veterinary Medicine, United States·View original on PubMed →
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Original publication title: A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.
- Species:
- cat
Plain-English summary
A 10-month-old male domestic longhair cat was brought in because he was frequently falling over and lying down with his legs stiffened when startled or excited. The vet found that he had unusually large muscles and episodes of facial spasms, along with a stiff, short-strided walk. Tests revealed a mutation in a gene linked to muscle function, leading to a condition called myotonia congenita, which causes muscle stiffness. The cat was treated with a medication called phenytoin, which significantly improved his condition over time.
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Abstract
CASE DESCRIPTION: A 10-month-old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity. CLINICAL FINDINGS: The cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short-strided, stiff gait. DIAGNOSTICS: Electromyography (EMG) identified spontaneous discharges that waxed and waned in amplitude and frequency, consistent with myotonic discharges. A high impact 8-base pair (bp) deletion across the end of exon 3 and intron 3 of the chloride voltage-gated channel 1 (CLCN1) gene was identified using whole genome sequencing. TREATMENT AND OUTCOME: Phenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long-term improvement. CLINICAL RELEVANCE: This novel mutation within the CLCN1 gene is a cause of myotonia congenita in cats and we report for the first time its successful treatment.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/35815860/