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Musladin-Lueke Syndrome (Beagle Type) Overview

Musladin-Lueke Syndrome (Beagle Type)
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Category: Musculoskeletal - Associated with muscles, bones and associated structures

Gene: ADAMTS like 2 (ADAMTSL2) on Chromosome 9

Variant Detected: Base Substitution c.660C>T p.Arg221Cys

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Musladin-Lueke Syndrome (MLS) is an inherited disorder whereby dogs have increased amounts of connective tissue in their skin and joints. Clinical signs are usually noted at birth and include stiff, sometimes contracted joints that cause dogs to walk upright and often on their tip-toes, giving them a “ballerina walk”. Affected dogs are smaller than littermates with creased ears and thick, tight skin. Other features of this disorder include short outer toes, broad flat foreheads with wide-set slanted eyes and high-set ears. Dogs may also exhibit a failure to thrive, have seizures or experience “phantom pains”. Symptoms continue to progress until dogs are about 1 year of age at which time they appear to stabilize. Dogs with this disorder typically have a normal life span, but commonly develop arthritis.

Research Citation(s): Bader HL, et al. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. (2010) PloS Genet 5(9);e12817.

Associated Breed(s): Beagle,  Mixed Breed,