Disease overview

Musladin-Lueke Syndrome (MLS) is a genetic disease that affects the structure and development of connective tissue. This multisystemic disease that causes abnormally strong junctions in multiple organs including muscle, bones, heart, and skin.

Gene name

ADAMTSL2

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs may be small in size, have thick, taut skin, tight joints with reduced mobility, and an abnormal "tip toe" gait. This disease may cause effects on the central nervous system and lead to seizures.

How is it diagnosed

A veterinarian will review health history, conduct a thorough exam, and note any clinical signs. A biopsy may be taken to help determine a diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

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):e12817. doi: 10.1371/journal.pone.0012817. PMID: 20862248; PMCID: PMC2941456.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.