Tag archives: muscle disease

Prevention Is Smart Breeding- PFK Deficiency in the English Springer Spaniel

Prevention Is Smart Breeding- PFK Deficiency in the English Springer Spaniel

Likely originating in Spain, the spaniel family of dogs have long been important companions to bird hunters around the world. As late as the 1880’s, springer and cocker spaniels were born in the same litters and were only differentiated by size after birth. Dogs under 28 pounds were considered “cockers” and were used for their ability to hunt the small wading bird known as the woodcock while the larger “springers” were used to flush game birds to be captured by trained birds of prey (which were later replaced by firearms). Separate breed status for cocker and springer spaniels was established in 1902 by the Kennel Club of England and the English springer spaniel (ESS) was formally recognized by the American Kennel Club in 1910. Since that time, the ESS has been further differentiated into the leaner and less densely haired “field” variety and the heavier boned and thicker coated show or “bench” lines.

Like other breeds, along the historical path to the modern ESS, the breed has developed some inherited disease concerns that keep breeders on their toes. Luckily, some of these inherited diseases can be eliminated from blood lines though the use of genetic testing technologies and selective breeding ...

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 ...