Musladin-Lueke Syndrome

General Information: Musladin-Lueke Syndrome (MLS) is an inherited disorder in dogs characterized by increased connective tissue in the skin and joints. Affected dogs, often Beagles, exhibit stiff, contracted joints, leading to an upright "ballerina walk," and are typically smaller with creased ears and thick, tight skin. Additional features include short outer toes, broad flat foreheads, wide-set slanted eyes, and high-set ears. Symptoms progress until about one year of age, after which they stabilize, and while these dogs generally have a normal lifespan, they commonly develop arthritis.

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 ADAMTSL2 gene can identify carriers of Musladin-Lueke Syndrome (MLS) in dogs. MLS is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to manifest. Carrier dogs typically show no symptoms but can produce affected pups if bred with another carrier, with each pup having a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices, and to avoid producing affected pups, carriers should not be bred together. Dogs without the mutation do not have an increased risk of having affected offspring.