Dystrophin-deficient muscular dystrophy in a weimaraner

A 2-year old male Weimaraner with muscular dystrophy was presented with generalized muscle atrophy of the limbs hypertrophy of the neck infraspinatus and lingual muscles dysphagia and regurgitation Unilateral cryptorchidism unilateral renal agenesis and hiatal hernia were also detected Spontaneous muscle activity was identified on myography Serum creatine kinase was markedly elevated Immunohistochemical staining for dystrophin was restricted to suspected revertant (characteristics of immaturity) fibers. Histologically skeletal myofiber degeneration endomysial fibrosis and mineralization were present Following euthanasia necropsy revealed hypertrophy of the diaphragm and cardiac muscle fibrosis This case of muscular dystrophy represents a slowly progressive form with organ agenesis.