Chapter 58. Dystrophinopathies

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief3,4,
  2. Daniel D. Truong MD, FAAN Head5,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head6 and
  4. Roongroj Bhidayasiri MD, FRCP Director7,8
  1. S. M. Schade van Westrum MD Consultant Neurologist1 and
  2. Marianne de Visser MD Neurologist Professor2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch58

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Schade van Westrum, S. M. and de Visser, M. (2009) Dystrophinopathies, in International Neurology: A Clinical Approach (eds R. P. Lisak, D. D. Truong, W. M. Carroll and R. Bhidayasiri), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444317008.ch58

Editor Information

  1. 3

    Wayne State University School of Medicine, Detroit, MI, USA

  2. 4

    Detroit Medical Center, Harper University Hospital, Detroit, MI, USA

  3. 5

    The Parkinson and Movement Disorder Institute, Memorial Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA

  4. 6

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 7

    Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand

  6. 8

    University of California at Los Angeles, School of Medicine, Los Angeles, CA, USA

Author Information

  1. 1

    Martini Ziekenhuis, Groningen, The Netherlands

  2. 2

    Neuromuscular Diseases, Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands

Publication History

  1. Published Online: 18 MAY 2010
  2. Published Print: 11 SEP 2009

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • dystrophinopathies;
  • Duchenne muscular dystrophy (DMD), boys showing progressive muscle weakness in combination with hypertrophy of calves;
  • Kostakow's, X-linked recessive family – much more benign course compared to DMD;
  • dystrophin gene identification - genetic testing for DMD and BMD;
  • dystrophin protein, associated with plasma membrane of cardiac and skeletal muscle (sarcolemma);
  • Becker muscular dystrophy (BMD);
  • Duchenne muscular dystrophy - “hypertrophic paraplegia of infancy,” still pivotal in clinical diagnosis of DMD


This chapter contains sections titled:

  • Introduction

  • Epidemiology

  • Pathophysiology

  • Clinical features

  • Investigations

  • Treatment/management

  • Further reading