Pembroke Welsh Corgi Duchenne Muscular Dystrophy
Affected Genes: DMD
Inheritance: X-Linked Recessive
Variant(canFam6):
chrX:32713995-32713996: Approx. 480 bp insertion
Breed: Pembroke Welsh Corgi
General Information: Duchenne muscular dystrophy is an inherited disease in dogs that impairs the production of a protein crucial for muscle contraction and relaxation. Affected dogs exhibit symptoms such as generalized muscle atrophy, a stiff or shuffling gait, difficulty standing, exercise intolerance, and overflexion of the ankle joint. They also struggle with feeding, often drooling, and are typically smaller than their littermates by six weeks of age. Additionally, the cardiac muscle may be compromised, potentially leading to heart disease.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the DMD gene can determine if a dog is a carrier of Duchenne muscular dystrophy, an X-linked recessive disorder. Female dogs must inherit two copies of the mutated gene to develop the disease, while male dogs only need one copy, making them more likely to exhibit symptoms. Each male pup born to a carrier female has a 50% chance of inheriting the disease. To prevent affected pups and eliminate the mutation from breeding lines, it is advised not to breed known carriers. Dogs that are not carriers do not have an increased risk of producing affected offspring.
References:
Smith BF, Yue Y, Woods PR, Kornegay JN, Shin JH, Williams RR, Duan D. An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest. 2011 91(2):216-231.