Muscular Dystrophy (Discovered in the Cavalier King Charles Spaniel)

Duchenne muscular dystrophy results from dysfunction of the sarcolemma (cell membrane of muscle fiber cells) which causes degeneration and necrosis of muscle tissue. It is a progressive condition that eventually leads to muscle fibrosis (formation of excess fibrous connective tissue). First signs of disease, such as bunny-hopping gait, can be observed in eight to ten weeks old puppies. Affected puppies have a thick tongue base and are unable to open the mouth properly which causes eating difficulties and excess drooling. Duchenne muscular dystrophy is characterized by crouched posture caused by spinal curvature and bending of the back. Serum creatine kinase concentrations can be over 300 times higher than normal levels.

Treatment is supportive care. Humane euthanasia for affected puppies is often elected.

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disorder is X-linked recessive, meaning the genetic variant is found on the X chromosome. Given males only have one X chromosome, a single affected copy will increase the risk of being diagnosed with the disorder. Females typically require two copies to be at an elevated risk. Use of dogs with one or two copies of the variant is not recommended for breeding as there is a risk that the resulting litter will contain affected puppies. Please note: It is possible that clinical signs similar to the ones caused by this variant could develop due to a different genetic or clinical cause.