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Dystrophin-Deficient Muscular Dystrophy in a Weimaraner

From the Department of Clinical Sciences (Baltzer), College of Veterinary Medicine, Oregon State University, 105 Magruder Hall, Corvallis, Oregon 97331; the Departments of Pathobiology (Calise, Edwards) and Small Animal Medicine and Surgery (Levine, Steiner), College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas 77843-4474; and the Department of Pathology (Shelton), School of Medicine, University of California–San Diego, La Jolla, California 92093-0709.

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.