Mutation Identified in Congenital Myotonia in Cats: Genetic Test Available

Myotonia Congenita (MC) is a hereditary muscle disease where the sarcolemmal chloride channels fail to maintain high chloride conductance resulting in sustained muscle contraction. The clinical presentation includes protrusion of the tongue, limited jaw range of motion, halitosis, excessive drooling and prominent neck and proximal limb musculature. Myotonia is characterized by very-high-frequency complex repetitive discharges on electromyographic examination similar to the "swarming of bees" (Press play to hear the sound of complex repetitive discharges). A mutation has been identified in feline MC (see below and click here to read the full paper) and a genetic test is available.