Chapter 63. Emery–Dreifuss Muscular Dystrophy

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief5,6,
  2. Daniel D. Truong MD, FAAN Head7,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head8 and
  4. Roongroj Bhidayasiri MD, FRCP Director9,10
  1. Ronnie Karayan MD Fellow1 and
  2. Tahseen Mozaffar MD Associate Professor Director2,3,4

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch63

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Karayan, R. and Mozaffar, T. (2009) Emery–Dreifuss Muscular 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.ch63

Editor Information

  1. 5

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

  2. 6

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

  3. 7

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

  4. 8

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 9

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

  6. 10

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

Author Information

  1. 1

    Clinical Neurophysiology, Department of Neurology, University of California, Irvine, Orange, CA, USA

  2. 2

    (Neurology and Orthopaedic Surgery), University of California, Irvine, CA, USA

  3. 3

    Neuromuscular Program, CA, USA

  4. 4

    UC Irvine-MDA ALS and Neuromuscular Center, Orange, CA, USA

Publication History

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

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008

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Keywords:

  • Emery – Dreifuss muscular dystrophy;
  • EDMD, most often presenting in early childhood;
  • X-Linked EDMD, caused by mutation in EMD gene - encoding a protein named emerin;
  • EDMD cardiomyopathy - presence of atrioventricular conduction defects;
  • diagnostic evaluation, normal or moderately elevated serum creatine kinase activities;
  • no specific treatment - aside from standard evaluation and treatments applicable to muscular dystrophies

Summary

This chapter contains sections titled:

  • Introduction

  • Pathophysiology

  • Clinical features

  • Investigations

  • Management

  • Further reading