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Musladin-Lueke Syndrome (Beagle Type)

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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.

Category:

Dermatologic - Associated with the skin

Gene:

ADAMTS like 2 (ADAMTSL2) on Chromosome 9

Variant Detected:

Base Substitution c.660C>T p.Arg221Cys

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

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,

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