Clinical progression of X-linked muscular dystrophy in two German Shorthaired Pointers. Academic Article uri icon


  • CASE DESCRIPTION: 2 full-sibling male German Shorthaired Pointer (GSHP) puppies (dogs 1 and 2) with X-linked muscular dystrophy and deletion of the dystrophin gene (gene symbol, DMD) each had poor growth, skeletal muscle atrophy, pelvic limb weakness, episodic collapse, and episodes of coughing. CLINICAL FINDINGS: Initial examination revealed stunted growth, brachygnathism, trismus, and diffuse neuromuscular signs in each puppy; clinical signs were more severe in dog 2 than in dog 1. Immunohistochemical analysis revealed a lack of dystrophin protein in both dogs. During the next 3 years, each dog developed hyperinflation of the lungs, hypertrophy of the cervical musculature, and hypertrophy of the lateral head of the triceps brachii muscle. TREATMENT AND OUTCOME: Monitoring and supportive care were provided at follow-up visits during an approximately 7-year period. No other specific treatment was provided. Neuromuscular signs in both dogs remained stable after 3 years of age, with dog 2 consistently more severely affected than dog 1. The dogs had multiple episodes of aspiration pneumonia; dogs 1 and 2 were euthanatized at 84 and 93 months of age, respectively. CLINICAL RELEVANCE: The clinical course of disease in these dogs was monitored for a longer period than has been monitored in previous reports of dystrophin-deficient dogs. The clinical progression of muscular dystrophy in the 2 GSHPs was compared with that for other breeds and species with dystrophin-deficient conditions, and the potential basis for the phenotypic variation observed between these littermates, along with potential therapeutic ramifications for dogs and humans, was evaluated.

published proceedings

  • J Am Vet Med Assoc

author list (cited authors)

  • Olby, N. J., Sharp, N., Nghiem, P. E., Keene, B. W., DeFrancesco, T. C., Sidley, J. A., Kornegay, J. N., & Schatzberg, S. J.

citation count

  • 9

complete list of authors

  • Olby, Natasha J||Sharp, Nick JH||Nghiem, Peter E||Keene, Bruce W||DeFrancesco, Teresa C||Sidley, Jennifer A||Kornegay, Joe N||Schatzberg, Scott J

publication date

  • January 2011