NEUROMUSCULAR CASE OF THE MONTH – FEBRUARY 2008

Emerging syndrome in young Beagles
Contributed by Dr. G. Diane Shelton
Department of Pathology
University of California, San Diego



A syndrome presenting at birth with a broad skull and wide-set slanted eyes progressing to limb stiffness, restricted joint flexion and extension, and a bunny hopping gait has been identified by Beagle breeders since the early 1990’s. Affected dogs appear to be standing on the toes. An 18 week-old Beagle affected with this disorder is shown below (Image courtesy of Dr. Christopher May, Northwest Surgeons, Cheshire, England).  Information regarding this clinical syndrome is currently available only on the internet or in breed books. Nothing as yet is published in the scientific literature.  This syndrome has been known by breeders as “Chinese Beagle Syndrome” and Musladin-Lueke Syndrome in recognition of the two people that started the original investigation of this problem.  It is important that the clinical phenotype and pathological changes are completely and accurately characterized so that correlations with mutational analyses can be made. Veterinarians aware of clinically affected Beagles are encouraged to contact Dr. Mark Neff at the UC Davis Veterinary Genetics Laboratory (mwneff@ucdavis.edu) or  Dr. Diane Shelton in the Department of Pathology, University of California, San Diego (gshelton@ucsd.edu). The causative gene and causal mutation have been  identified at UC Davis,  and a DNA test is imminent.  The test is expected to be offered by the end of the summer through the UC Davis Veterinary Genetics Laboratory  (http://www.vgl.ucdavis.edu/). While a genetic test is on the horizon, additional research is need to fully understand this disease.

emerging syndrome

 

   

 

 

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