Peer-reviewed veterinary case report
Hereditary muscle stiffness in cats linked to new gene variant
By Corrêa, Sílvia et al.·Published in Journal of veterinary internal medicine·2023·Veros Veterinary Hospital, Brazil·View original on PubMed →
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Original publication title: Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC-1.
- Species:
- cat
Plain-English summary
Three related cats were brought in because they had a short-strided gait and would sometimes fall over after being startled. Tests showed that they had myotonia, which means their muscles had trouble relaxing after contracting. A genetic test found a specific mutation in a gene that affects muscle function, which is linked to this condition. This is a new finding for hereditary myotonia in cats, and it’s the first time this particular mutation has been identified in domestic animals. Unfortunately, there is no specific treatment mentioned, but understanding the genetic cause can help manage their symptoms.
People also search for: cat myotonia symptoms · why is my cat falling over · hereditary muscle problems in cats · cat short-strided gait treatment
Abstract
Three-related cats were evaluated for a history of short-strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage-gated channel 1 (CLCN1) molecular study were performed. Clinically, all 3 cats presented myotonia with warm-up phenomenon and myotonic discharges during EMG examination. Muscle biopsies showed normal muscle architecture and variation in the diameter of myofiber size with the presence of numerous hypertrophic fibers. The molecular study revealed a missense variant (c.991G>C, p.Ala331Pro) in exon 9 of the CLCN1 gene, responsible for the first chloride channel extracellular loop. This mutation was screened in 104 control phenotypically normal unrelated cats, and all were wildtype. The alanine at this position is conserved in ClC-1 (chloride channel protein 1) in different species, and 2 mutations at this amino acid position are associated with human myotonia. This is the third CLCN1 mutation described in the literature associated with hereditary myotonia in cats and the first in domestic animals located in an extracellular muscle ClC-1 loop.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37668104/