Congenital myotonia (A331P)

General description

Congenital myotonia is a disease that affects the skeletal muscles. It is caused by a variant in the CLCN1 gene that affects the function of chloride channels. Affected cats exhibit a stiff gait with shortened strides, although repeated movements result in a brief improvement (warm-up effect). In addition, in response to a startle stimulus, the muscles stiffen, causing the cats to fall over (startle-induced myotonia), from which they recover after a few seconds. In general, affected cats tend to be reluctant to move. Gum inflammation (gingivitis) and bad breath (halitosis) have also been reported. Symptoms appear as early as the first few months of life.

Breeds

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