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.
Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.
Mickelson JR, Minor KM, Guo LT, Friedenberg SG, Cullen JN, Ciavarella A, Hambrook LE, Brenner KM, Helmond SE, Marks SL, Shelton GD.
Skelet Muscle. 2021 Jan 7;11(1):2. doi: 10.1186/s13395-020-00257-y.
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