title: Dystrophin-deficient muscular dystrophy in a Norfolk terrier.
abstract: A six-month-old male entire Norfolk terrier was presented with a 3-month history of poor development, reluctance to exercise and progressive and diffuse muscle atrophy. Serum creatine kinase concentration was markedly elevated. Magnetic resonance imaging of the epaxial muscles revealed asymmetrical streaky signal changes aligned within the muscle fibres (hyperintense on T2-weighted images and short-tau inversion recovery with moderate contrast enhancement on T1-weighted images). Electromyography revealed pseudomyotonic discharges and fibrillation potentials localised at the level of the supraspinatus, epaxial muscles and tibial cranialis muscles. Muscle biopsy results were consistent with dystrophin-deficient muscular dystrophy. The dog remained stable 7 months after diagnosis with coenzyme Q10 and l-carnitine; however after that time, there was a marked deterioration and the owners elected euthanasia. This case report describes the clinical presentation, magnetic resonance imaging, electrodiagnostic and histopathological findings with immunohistochemical analysis in a Norfolk terrier with confirmed dystrophin-deficient muscular dystrophy, which has not been previously described in this breed.
authors.affiliation: Centre for Small Animal Studies, Animal Health Trust, Newmarket, Suffolk, CB87UU.
authors.forename: E
authors.initials: E
authors.lastname: Beltran
authors.forename: G D
authors.initials: GD
authors.lastname: Shelton
authors.forename: L T
authors.initials: LT
authors.lastname: Guo
authors.forename: R
authors.initials: R
authors.lastname: Dennis
authors.forename: D
authors.initials: D
authors.lastname: Sanchez-Masian
authors.forename: D
authors.initials: D
authors.lastname: Robinson
authors.forename: L
authors.initials: L
authors.lastname: De Risio
mesh_terms: D000818:Animals; D001706:Biopsy / Q000662:veterinary; D004283:Dog Diseases / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D004285:Dogs; D016189:Dystrophin / Q000032:analysis* / Q000172:deficiency; D004576:Electromyography / Q000662:veterinary; D008279:Magnetic Resonance Imaging / Q000662:veterinary; D008297:Male; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology / Q000503:physiopathology; D009137:Muscular Dystrophy, Animal / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology
chemical_list: D016189:Dystrophin