NEUROMUSCULAR CASE OF THE MONTH - SEPTEMBER 2013

Mutation Identified in Japanese Spitz Dystrophin Deficient
Muscular Dystrophy: Genetic Test Available
Contributed by Dr. Sabela Atencia
University Veterinary Hospital
University College Dublin, Ireland


Several years ago a dystrophin deficient muscular dystrophy was described in seven male Japanese Spitz dogs (Jones et al 2004) with clinical signs of slowly progressive exercise intolerance, generalized weakness and dysphagia (image of an affect Spitz below). Recently the causative mutation was identified for X-linked muscular dystrophy in this breed (Atencia et al 2013) and a genetic test is now available.

For information regarding sample submission: http://www.ucd.ie/vthweb/jst.html or contact sabela.atencia@ucd.ie or carmel.mooney@ucd.ie

spitz
Image Courtesy of Dr. Boyd Jones


References:

Jones BR, Brennan S, Mooney CT, Callanan JJ, McAllister H, Guo LT, Martin PT, Engvall E, Shelton GD (2004). Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. J Neurol Sci 217;143-149.

Atencia S, Mooney CT, Shiel R, Jones BR, Nolan CM (2013). Muscular dystrophy in Japanese Spitz: Description of the mutation and carrier detection using polymerase chain reaction. J Vet Intern Med 27;675.


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