Why short stature is beneficial in duchenne muscular dystrophy

Marko Bodor, Craig M McDonald

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is caused by a genetic defect resulting in absent dystrophin, yet children are able to walk when small and young but lose this ability as they grow. The mdx mouse has absent dystrophin yet does not exhibit significant disability. Methods: Allometric modeling of linearly increasing load per muscle fiber and stress on the sarcolemma with growth and exponential decline associated with loss of muscle fibers correlated with case studies and animal models of DMD. Results: Smaller species or breeds are predictably less affected than large as follows: mdx mice<small golden retriever muscular dystrophy (GRMD) dogs<large GRMD dogs<humans. Case reports of combined growth hormone and dystrophin deficiency show a relatively benign course of disease. Conclusions: Future therapeutic trials in DMD might include specific growth inhibitors in combination with standard of care treatments to delay the clinical onset and reduce the severity of disease and disability.

Original languageEnglish (US)
Pages (from-to)336-342
Number of pages7
JournalMuscle and Nerve
Volume48
Issue number3
DOIs
StatePublished - Sep 2013

Keywords

  • Duchenne muscular dystrophy
  • Growth
  • Sarcolemma
  • Stature
  • Stress

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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