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
- hypophonic speech
Other diagnostic factors
- propensity for falls
- sialorrhoea and drooling
- inappropriate bursts of crying or laughing
- cognitive impairment
- features of frontotemporal dementia
Risk factors
- genetic predisposition or family history
- age >40 years
- military service
- professional athletic activity
- cigarette smoking
- agricultural chemical exposure
- lead exposure
Diagnostic investigations
1st investigations to order
- clinical diagnosis
Investigations to consider
- electromyography (EMG) and nerve conduction studies
- repetitive nerve stimulation
- MRI brain and spine
- anti-GM1 antibodies
- voltage-gated calcium-channel antibodies
- acetylcholine receptor (AChR) and muscle-specific tyrosine kinase (MuSK) antibodies
- vitamin B₁₂
- creatine kinase
- lumbar puncture
- HIV test
- genetic testing
Treatment algorithm
all patients
Contributors
Authors
Christen Shoesmith, MD, FRCPC
Associate Professor of Neurology
Clinical Neurological Sciences
London Health Sciences Centre
London
Ontario
Canada
Disclosures
CS has received honoraria from Mitsubishi Tanabe Pharma Canada for participating in scientific medical advisory boards and for presenting at ALS CME events. She has also received stipends for consultancy work for Biogen. She is the chair of the CALS (Canadian ALS Research Network) and in that capacity sits on the scientific medical advisory board for ALS Canada. She is the site PI for several multi-centre clinical trials, including trials sponsored by Mitsubishi Tanabe, AL-S Pharma, Sanofi, Calico, and Cytokintetics. CS is an author of references cited in this topic.
Acknowledgements
Dr Christen Shoesmith would like to gratefully acknowledge Professor Christopher J. McDermott, Dr Laura Simionescu, and Dr Jeremy Shefner, previous contributors to this topic.
Disclosures
CJM received fees for membership of data monitoring committees from Orion Pharma and Orphazyme. 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.
References
Key articles
Shoesmith C, Abrahao A, Benstead T, et al. Canadian best practice recommendations for the management of amyotrophic lateral sclerosis. CMAJ. 2020 Nov 16;192(46):E1453-68.Full text Abstract
Andersen PM, Abrahams S, Borasio GD, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) - revised report of an EFNS task force. Eur J Neurol. 2012 Mar;19(3):360-75.Full text Abstract
Brooks BR, Miller RG, Swash M, et al; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. Abstract
de Carvalho M, Dengler R, Eisen A, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008 Mar;119(3):497-503. Abstract
Shefner JM, Al-Chalabi A, Baker MR, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020 Aug;131(8):1975-8.Full text Abstract
Miller RG, Jackson CE, Kasarskis EJ, et al; Quality Standards Subcommittee of the American Academy of Neurology. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review). Neurology. 2009 Oct 13;73(15):1227-33.Full text Abstract
Miller RG, Jackson CE, Kasarskis EJ, et al; Quality Standards Subcommittee of the American Academy of Neurology. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review). Neurology. 2009 Oct 13;73(15):1218-26. [Errata in: Neurology. 2009 Dec 15;73(24):2134; Neurology. 2010 Mar 2;74(9):781.]Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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