A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment

Christian Woelfel, Kathryn Meurs, Steven Friedenberg, Nicole DeBruyne, Natasha J. Olby

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1454-1459
Number of pages6
JournalJournal of veterinary internal medicine
Issue number4
StatePublished - Jul 2022

Bibliographical note

Funding Information:
No funding was received for this study. We acknowledge the assistance of Dr. Martha Worthington.

Publisher Copyright:
© 2022 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.


  • chloride channel
  • electromyography
  • nondystrophic myotonia
  • phenytoin


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