Musladin-Lueke Syndrome (MLS)
Chinese Beagle Syndrome, MLS
Musladin-Lueke Syndrome (MLS) is a genetic condition affecting Beagles. This disorder results in increased amounts of connective tissue in the skin and joints which affects the dog’s appearance and walk. One noticeable symptom of the disease that can typically be observed shortly after the puppy is born is known as a “ballerina walk” where the dog walks upright on their tiptoes. Additional symptoms of the disease can include decreased size in comparison to littermates, thick or tight skin, creased and high-set ears, broad flat foreheads with wide-set eyes, and shorter outer toes. Affected dogs can experience seizures or “phantom pain” and may also exhibit a failure to thrive. Symptoms typically progress until the dog is approximately 1 year of age at which time they will typically stabilize. This disease can present with a wide range of severity meaning some dogs may experience mild to moderate symptoms while other dogs may be severely impaired. There is currently no cure for MLS and dogs affected by this disorder will typically develop arthritis over their lifetime but will have a normal life span.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Musladin-Lueke Syndrome nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Musladin-Lueke Syndrome and will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Musladin-Lueke Syndrome which typically results in increased amounts of connective tissue in the skin and joints.
Additional Details
Inheritances
Autosomal recessive
Affected gene
ADAMTSL2
Chromosome
Ch. 9
Mutation
chr9:49931561 (canFam3): C>T
Publication:
Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O’Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One. 2010 Sep 17; 5(9). [PubMed: 20862248]
