2022 article

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

Woelfel, C., Meurs, K., Friedenberg, S., DeBruyne, N., & Olby, N. J. (2022, July 11). JOURNAL OF VETERINARY INTERNAL MEDICINE, Vol. 7.

By: C. Woelfel n, K. Meurs n, S. Friedenberg*, N. DeBruyne n & N. Olby n

author keywords: chloride channel; electromyography; nondystrophic myotonia; phenytoin
MeSH headings : Animals; Cat Diseases / diagnosis; Cat Diseases / drug therapy; Cat Diseases / genetics; Cats; Chloride Channels / genetics; Electromyography / veterinary; Exons; Male; Mutation; Myotonia Congenita / diagnosis; Myotonia Congenita / drug therapy; Myotonia Congenita / genetics; Myotonia Congenita / veterinary
TL;DR: Phenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long‐term improvement and is reported for the first time its successful treatment. (via Semantic Scholar)
Source: Web Of Science
Added: July 18, 2022

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.