Amyotrophic lateral sclerosis

Last reviewed: 28 Aug 2022
Last updated: 10 Mar 2020

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • upper extremity weakness
  • stiffness, with poor co-ordination and balance
  • spastic, unsteady gait
  • painful muscle spasms
  • difficulties in arising from chairs and climbing stairs
  • foot drop
  • stiffness and decreased balance with impact on gait
  • head drop
  • progressive difficulties in maintaining erect posture, with stooping
  • muscle atrophy
  • increased lumbar lordosis and tendency for abdominal protuberance
  • hyper-reflexia
  • dyspnoea
  • coughing and choking on liquids (including secretions) and eventually on food
  • strained, slow speech
  • slurred, nasal, and, at times, dysphonic speech
More key diagnostic factors

Other diagnostic factors

  • propensity for falls
  • sialorrhoea and drooling
  • inappropriate bursts of crying or laughing
  • cognitive impairment
  • features of frontotemporal dementia
Other diagnostic factors

Risk factors

  • genetic predisposition or family history
  • age >40 years
  • military service
  • professional athletic activity
  • cigarette smoking
  • agricultural chemical exposure
  • lead exposure
More risk factors

Diagnostic investigations

1st investigations to order

  • clinical diagnosis
More 1st investigations to order

Investigations to consider

  • electromyography (EMG)
  • repetitive nerve stimulation
  • MRI brain and spine
  • anti-GM1 antibodies
  • voltage-gated calcium-channel antibodies
  • acetylcholine receptor antibodies
  • vitamin B₁₂
  • creatine kinase
  • lumbar puncture
  • HIV test
  • genetic testing
More investigations to consider

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Christopher J. McDermott, MBChB, FRCP, PhD

Professor of Translational Neurology and Honorary Consultant Neurologist

University of Sheffield

Faculty of Medicine, Dentistry and Health

Department of Neuroscience

Sheffield Institute for Translational Neuroscience

Sheffield

UK

Disclosures

CJM has received fees for membership of data monitoring committees from Orion Pharma and Orphazyme.

Acknowledgements

Professor Christopher J. McDermott would like to gratefully acknowledge Dr Laura Simionescu and Dr Jeremy Shefner, previous contributors to this topic.

Disclosures

LS and JS declare that they have no competing interests.

Peer reviewers

William S. David, MD, PhD

Associate Professor of Neurology

Harvard Medical School

Boston

MA

Disclosures

WSD declares that he has no competing interests.

Leo McCluskey, MD MBE

Associate Professor of Neurology

University of Pennsylvania

Philadelphia

PA

Disclosures

LM declares that he has no competing interests.

Martin R. Turner, MA, MBBS, PhD, MRCP

MRC/MNDA Lady Edith Wolfson Clinician Scientist & Honorary Consultant Neurologist

Oxford University Department of Clinical Neurology

John Radcliffe Hospital

Oxford

UK

Disclosures

MRT is a co-author of "Motor Neuron Disease – A Practical Manual" (Oxford University Press, 2010), which is a summary of his own understanding and practice, and which strongly influenced the recommendations for revision of the current article. He receives a proportion of royalties derived from sales of this book.

  • Differentials

    • Cervical spondylosis with myelopathy and radiculopathy
    • Multifocal motor neuropathy
    • Inclusion body myositis
    More Differentials
  • Guidelines

    • Motor neurone disease: assessment and management
    • EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force
    More Guidelines
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