Muscle pain as the only presenting symptom in a girl with dystrophinopathy

Pediatr Neurol. 2008 Jan;38(1):64-6. doi: 10.1016/j.pediatrneurol.2007.09.006.


We present a family with dystrophinopathy in whom the proband is a female aged 4.5 years, who presented with exertional muscle pain without weakness. Familial analysis identified a maternal nephew of the proband who demonstrated a similar clinical picture, with asymptomatic cardiomyopathy. A DNA analysis revealed an in-frame deletion in the proximal part of domain II of the dystrophin gene. Extensive familial analysis indicated that the asymptomatic maternal grandfather transmitted the deletion. This is the first report of a young female patient with exertional muscle pain as the only early presenting symptom of dystrophinopathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Dystrophin / genetics*
  • Female
  • Gene Deletion
  • Genetic Markers / genetics
  • Genotype
  • Humans
  • Inheritance Patterns / genetics
  • Male
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / physiopathology*
  • Mutation / genetics
  • Pain / genetics*
  • Pain / metabolism
  • Pain / physiopathology*
  • Pedigree
  • Sex Factors


  • Dystrophin
  • Genetic Markers