Chapter 55. Spinal Muscular Atrophies

  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. Sabine Rudnik-Schöneborn MD, PhD Professor1 and
  2. Klaus Zerres MD Head2

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch55

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Rudnik-Schöneborn, S. and Zerres, K. (2009) Spinal Muscular Atrophies, 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.ch55

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

    Medical Faculty, Institute of Human Genetics, University Hospital RWTH, Aachen, Germany

  2. 2

    Institute for Human Genetics, RWTH, Aachen University, Aachen, Germany

Publication History

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

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • spinal muscular atrophies;
  • spinal muscular atrophy (SMA), comprising clinically and genetically heterogeneous group of diseases characterized by degeneration;
  • classification of spinal muscular atrophies;
  • proximal SMAs, divided into autosomal recessive and rare autosomal dominant types;
  • SMA, primarily a disease of anterior horn cells;
  • serum creatine kinase (SCK) activity - normal or only mildly elevated;
  • infantile- and juvenile-onset proximal SMAs (SMA types I–III) - caused by defects of SMN1 gene on chromosome 5q13;
  • SMA type IV (adult SMA) - comprising clinically and genetically heterogeneous condition;
  • spinobulbar neuronopathy type Kennedy - pronounced muscle cramps and fasciculations;
  • scapuloperoneal SMA - variable, affecting foot and toe extensors first


This chapter contains sections titled:

  • Introduction

  • Epidemiology

  • Clinical features and investigations

  • Further reading