Chapter 57. Limb Girdle Muscular Dystrophies

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief4,5,
  2. Daniel D. Truong MD, FAAN Head6,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head7 and
  4. Roongroj Bhidayasiri MD, FRCP Director8,9
  1. Ignacio M. Carrillo-Nunez MD Neurologist1,
  2. Anneke J. van der Kooi MD, PhD Consultant Neurologist2 and
  3. Marianne de Visser MD Neurologist Professor3

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch57

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Carrillo-Nunez, I. M., van der Kooi, A. J. and de Visser, M. (2009) Limb Girdle Muscular Dystrophies, 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.ch57

Editor Information

  1. 4

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

  2. 5

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

  3. 6

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

  4. 7

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 8

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

  6. 9

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

Author Information

  1. 1

    Orange Coast Memorial Medical Center, Fountain Valley Regional Medical Center, Fountain Valley, CA, USA

  2. 2

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

  3. 3

    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

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Keywords:

  • limb girdle muscular dystrophy (LGMD);
  • autosomal recessive (Duchenne-like) LGMD - a rare disorder;
  • autosomal-dominant LGMD as LGMD1 and autosomal-recessive LGMD as LGMD2;
  • classification of limb girdle muscular dystrophy;
  • LGMD, heterogeneous group of disorders - characterized by progressive, usually rather symmetric, weakness and atrophy of proximal limb muscles;
  • autosomal recessive LGMD (type 2) - more frequent than dominant forms (LGMD1);
  • Serum creatine kinase (SCK) activity - markedly elevated in LGMD2 forms;
  • no proven treatment to cure or significantly delay - disease progression for any LGMD

Summary

This chapter contains sections titled:

  • Introduction

  • Epidemiology

  • Pathophysiology

  • Clinical features

  • Investigations

  • Treatment/management

  • Further reading