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Myotonia Congenita: A Preventable Inherited Disease of the Miniature Schnauzer

Myotonia Congenita: A Preventable Inherited Disease of the Miniature Schnauzer

From their origins in Germany, the miniature schnauzer and its entertaining, high-spirited personality have endeared them to people all over the world. Originally bred to be an effective, small breed vermin hunter, it is believed that the miniature schnauzer was the product of breeding small breeds like the affenpincher and small poodles with the standard schnauzer. First recognized as an independent breed in the late 19th century, miniature schnauzers have since firmly planted themselves as popular, devoted family members and guard dogs. In 2013, they were ranked 17th in the AKC registration statistics; an indication of their significant popularity in the US. Unfortunately, like other purebred dogs, the miniature schnauzer is reported to inherit some genetic diseases that can prevent them from being the spunky terrier they are otherwise known to be. One such condition is an inherited muscular disease known as myotonia congenita (MC).

MC is a disorder of skeletal muscle caused by a mutation of the CLCN1 gene in which muscles display hyperexcitability and delayed relaxation after contracting. Affected puppies are usually identified when they begin walking due to the presence of a stiff gait resulting in frequent falls. Though the episodes of muscle stiffness do not ...