Dystrophin-deficient muscular dystrophy in a Weimaraner.

TitleDystrophin-deficient muscular dystrophy in a Weimaraner.
Publication TypeJournal Article
Year of Publication2007
AuthorsBaltzer WI, Calise DV, Levine JM, Shelton GD, Edwards JF, Steiner JM
JournalJournal of the American Animal Hospital Association
Volume43
Issue4
Pagination227-32
Date Published2007 Jul-Aug
ISSN1547-3317
KeywordsAnimals, Diagnosis, Differential, Dog Diseases, Dogs, Dystrophin, Electromyography, Immunohistochemistry, Male, Muscle, Skeletal, Muscular Dystrophy, Animal
Abstract

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.

Alternate JournalJ Am Anim Hosp Assoc