Chapter 61. Myotonic Dystrophy

  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. Slobodan Apostolski MD, PhD Head1 and
  2. Vidosava Rakocevic-Stojanovic MD, PhD Associate Professor2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch61

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Apostolski, S. and Rakocevic-Stojanovic, V. (2009) Myotonic Dystrophy, 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.ch61

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

    Neuromuscular Unit, School of Medicine, University of Belgrade, Belgrade, Serbia, Yugoslavia

  2. 2

    Institute of Neurology, Clinical Centre of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia, Yugoslavia

Publication History

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

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • myotonic dystrophy (DM, dystrophia myotonica or Steinert's disease) - most common form of muscular dystrophy in adults;
  • myotonic dystrophy type 1 (DM1);
  • prevalence of DM1 - approximately 5 per 100 000 in American and European populations;
  • myotonic dystrophy type 1 (DM1), by aberrantly expanded CTG repeat in 3′-untranslated region of DM protein kinase (DMPK) gene;
  • atrophy and weakness of sternomastoids and hyperlordosis of neck (“swan neck”);
  • gastrointestinal symptoms - in as many as 80% of patients;
  • iridiscent posterior subcapsular cataracts (metachromatic or “Christmas tree”) - found by slit-lamp examination;
  • myotonic dystrophy type 2 (DM2);
  • electromyogram (EMG) investigation - revealing electrical myotonia


This chapter contains sections titled:

  • Introduction

  • Epidemiology

  • Pathophysiology

  • Clinical features

  • Investigations

  • Treatment

  • Further reading