Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • COVID-19
    • Practice Current
    • Practice Buzz
    • Without Borders
    • Equity, Diversity and Inclusion
    • Innovations in Care Delivery
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • COVID-19
    • Practice Current
    • Practice Buzz
    • Without Borders
    • Equity, Diversity and Inclusion
    • Innovations in Care Delivery
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

Share

February 25, 2020; 94 (8) Patient Page

Understanding the different types of ALSAbout ALS

Steven Karceski
First published February 24, 2020, DOI: https://doi.org/10.1212/WNL.0000000000009008
Steven Karceski
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Understanding the different types of ALSAbout ALS
Steven Karceski
Neurology Feb 2020, 94 (8) e880-e883; DOI: 10.1212/WNL.0000000000009008

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
1738

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

Embedded Image

Amyotrophic lateral sclerosis (ALS) occurs in older adults, but it can show itself in many different ways. ALS mostly affects muscle strength. It can affect different muscles in our bodies, and because of this, does not always look the same from one person to another. For instance, some people will have a form of ALS that mostly affects their breathing (or respiratory) muscles. When this happens, they have shortness of breath, even after minor exercise. For others, ALS may affect their throat and mouth muscles first: this results in difficulty swallowing (often called bulbar ALS). With increasing study, scientists have also recognized that may people with ALS not only have muscle weakness, but may also have problems with thinking, or changes in their behavior.

What did the authors study?

More recently, several studies have shown a connection between ALS and specific genes. Although these genes may not be the cause of ALS, having one or more of these may predispose some people to developing ALS as they get older. In their article, Dr. Chiò et al. studied 2,839 people with ALS (also called Lou Gehrig disease) in order to better understand the different types of ALS (table ).

View this table:
  • View inline
  • View popup
  • Download powerpoint
Table

The patients described by Chiò et al.

How was the study done?

Since 1995, in Piedmont, Italy, records have been collected on people who were diagnosed with ALS. Chiò et al. looked at all of these records: in total, there were 2,839 people diagnosed with ALS between January 1, 1995, and December 31, 2015. For many of these people (2,349), records were available over many visits to the doctor, increasing the information and reliability of the available information. In this study, the average age of the person with ALS was 67.1 years.1

Between 1995 and 2015, 2 changes occurred. First, there was the recognition that ALS was associated with changes in thinking or behavior. In 2007, extensive cognitive testing was added. Because this occurred later in the study, there were a smaller number of people who had this type of testing: 763. Similarly, genetic testing was started in 2005: of the over 2,800 people in this study, 1,410 had genetic testing.

What did the study show?

Chiò et al. looked at the different types of ALS, and found the following:

  • The swallowing type (bulbar) occurred more in the older group

  • The paraparesis or quadriparesis type or the classic type tended to affect younger patients

  • Flail arm and the respiratory type occurred more in men

  • The abnormal gene (C9orf72 expansions) was related to the bulbar phenotype

  • The abnormal SOD1 gene was associated with the flail leg and bulbar types of ALS

Chiò et al. found a strong correlation between the bulbar type of ALS and the development of cognitive problems.

It has long been observed that ALS is a disease that affects us as we get older. Men tend to get ALS more often than women. However, it is not known if there are other, more subtle differences between the different types of ALS. The Chiò et al. study tried to clarify some of these associations. It is through careful study that doctors and scientists can better understand complex diseases like ALS. In this way, improvements in diagnosis and treatment occur.

About ALS

What is ALS?

ALS is a progressive neurologic illness that primarily causes worsening muscle weakness. It was first described by the French neurologist Jean-Martin Charcot in 1869. The term ALS comes from the observation of muscle changes in combination with a specific change in the spinal cord. The changes in the spinal cord occur in the location of the nerves to our body's muscles.

Are there different types of ALS?

ALS can be either sporadic or genetic. The sporadic type is the most common. It accounts for 90% to 95% of all cases of ALS. The sporadic type can affect anyone. The genetic or familial type is rarer and accounts for 5%–10% of cases of ALS. The terms familial and genetic mean that this type of ALS is inherited. In families who have genetic ALS, there is an up to 50% chance that each child will inherit the gene and develop the disease.2

Is a diagnosis of ALS common?

ALS usually affects people between the ages of 40 and 70. Though rare, it is estimated there are more than 16,000 Americans who have the disease at any given time. ALS is often called Lou Gehrig disease. Another notable individual who was diagnosed with ALS was the theoretical physicist and author Stephen Hawking.

What are the symptoms?

ALS can affect any of the muscles in our bodies, which is why it affects each person differently. In addition, ALS progresses at different rates in different people. For some, it advances quickly. In others, the disease shows a much slower pace. Common symptoms include painless, progressive muscle weakness. Because of the weakness, the first thing a person might notice is tripping more often, or dropping things. Slurred speech, difficulty swallowing, and trouble breathing can occur.

How is ALS diagnosed?

ALS can be difficult to diagnose. There is not one single test that diagnoses ALS. Instead, the diagnosis is made based on the doctor's observations in combination with a variety of medical tests. Often, a person with these symptoms will have a comprehensive medical workup. Some of the tests performed are as follows:

  • EMG: a nerve test

  • Blood testing looking for other causes of muscle weakness

  • MRI of the brain or spinal cord (or both)

  • Spinal tap

  • If ALS runs in the family, genetic testing may be performed

There are many reasons to evaluate people carefully who might have ALS. First, a correct diagnosis can help the person (and the family) make plans for care. Second, there are several new treatments for ALS. Making the correct diagnosis is critical to deciding on the best treatment options.

For more information:

Brain & Life

brainandlife.org

ALS Association

alsa.org

ALS Therapy Development Institute

als.net

Les Turner ALS Foundation

lesturnerals.org

Footnotes

  • See page 347

References

  1. 1.↵
    1. Chiò A,
    2. Moglia C,
    3. Canosa A, et al
    . ALS phenotype is influenced by age, sex, and genetics: a population-based study. Neurology 2020;94:e802–e810.
    OpenUrlAbstract/FREE Full Text
  2. 2.↵
    Amyotrophic Lateral Sclerosis Association. Available at: alsa.org. Washington, DC: Amyotrophic Lateral Sclerosis Association. Accessed December 20, 2019.
  • © 2020 American Academy of Neurology
View Abstract

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

NOTE: All authors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.

  • Stay timely. Submit only on articles published within the last 8 weeks.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • 200 words maximum.
  • 5 references maximum. Reference 1 must be the article on which you are commenting.
  • 5 authors maximum. Exception: replies can include all original authors of the article.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Disputes & Debates Submission Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • What did the authors study?
    • How was the study done?
    • What did the study show?
    • What is ALS?
    • Are there different types of ALS?
    • Is a diagnosis of ALS common?
    • What are the symptoms?
    • How is ALS diagnosed?
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Related Articles

  • ALS phenotype is influenced by age, sex, and geneticsA population-based study

Alert Me

  • Alert me when eletters are published
Neurology: 96 (2)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Activate a Subscription
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2021 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise