Sarcoglycan Deficient Muscular Dystrophy

A form of limb-girdle muscular dystrophy associated with a mutation in a muscle sarcoglycan gene has been identified in young miniature Dachshunds from Australia, South Africa, and the US. Clinical signs, first noted at approximately 6 months of age were variable and included exercise intolerance, stiff gait, myoglobinuria and dysphagia. The serum CK activity was markedly and persistently elevated. Histopathology of muscle biopsies showed a dystrophic phenotype and immunofluorescent stainings showed all sarcoglycan proteins were markedly decreased or absent.

Research carried out at the University of Minnesota and the University of California San Diego – Comparative Neuromuscular Laboratory identified a pathogenic mutation in the alpha sarcoglycan gene (SGCA). This mutation is inherited in an autosomal recessive manner. We now offer a genetic test which allows owners to determine their dog’s status for this mutation (clear, carrier, or affected) in order to guide future breeding decisions and to definitively diagnose affected dogs.