Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • 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
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • 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

April 05, 2016; 86 (16 Supplement) April 20, 2016

Disease Burden and Functional Outcomes in Congenital Myotonic Dystrophy: A Cross-Sectional Study (S43.008)

Nicholas Johnson, Man Hung, Melissa Dixon, Deanna DiBella, Evan Pucillo, Kiera Berggren, Heather Hayes, Wei Chen, Russell Butterfield, Chad Heatwole, Craig Campbell
First published April 4, 2016,
Nicholas Johnson
3University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Man Hung
6Orthopedics University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Melissa Dixon
5Neurology University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Deanna DiBella
5Neurology University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Evan Pucillo
5Neurology University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kiera Berggren
5Neurology University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Heather Hayes
8Physical Therapy University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Wei Chen
4Epidemiology University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Russell Butterfield
7Pediatrics University of Utah Salt Lake City UT United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Chad Heatwole
2University of Rochester Medical Center Rochester NY United States
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Craig Campbell
1Children's Hospital London Health Sciences Centre London ON Canada
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Citation
Disease Burden and Functional Outcomes in Congenital Myotonic Dystrophy: A Cross-Sectional Study (S43.008)
Nicholas Johnson, Man Hung, Melissa Dixon, Deanna DiBella, Evan Pucillo, Kiera Berggren, Heather Hayes, Wei Chen, Russell Butterfield, Chad Heatwole, Craig Campbell
Neurology Apr 2016, 86 (16 Supplement) S43.008;

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
0

Share

  • Article
  • Info & Disclosures
Loading

Abstract

OBJECTIVE: To describe a profile of congenital myotonic dystrophy throughout childhood and identify appropriate clinical endpoints for future therapeutic trials. BACKGROUND: Congenital myotonic dystrophy (CDM) is a severe, infantile-onset form of myotonic dystrophy (DM1). There have been few clinical studies evaluating the natural history of CDM during childhood. DESIGN/METHODS: Patients with CDM between 0-13 years of age were enrolled in this study. Patients and age matched controls were divided into age-based cohorts (0-2, 3-6, and 7-13 years). Each cohort received a 2-day clinical evaluation including: neuropsychological testing, oral facial strength, motor strength and function, DEXA, ECG, and measurements of quality-of-life and disease burden. Subjects were evaluated over a two-day period. All statistical analyses were pairwise comparisons with a p-value less than 0.001 reported as significant. RESULTS: We recruited 41 subjects with CDM and 29 control subjects were recruited. In CDM patients, the mean IQ (65.8; SD 18.4) was three standard deviations below the mean compared to standardized norms. For oral facial strength, the mean lip force strength was significantly different in CDM patients (2.1 Newtons (SD 2.8)) compared to control subjects (17.8 Newtons (SD 7.6)). The six-minute walk was significantly different between CDM subjects (258.3 meters (SD 176.0)) and control subjects (568.2 meters (SD 73.2)). Measurements of grip strength, sleep quality, and quality-of-life were also significantly different. Right arm lean body mass correlated with measures of grip (r=.91) and pinch (r=0.82), while right leg lean body mass correlated with the 6MWT (r=0.62). Strength measures (oral facial strength, grip strength, and 6-minute walk) correlated with each other but not with participant IQ. CONCLUSIONS: This work comprehensively identifies the changes associated with CDM during childhood. Several measures were significantly different between CDM and control subjects and may be useful during future therapeutic trials. Study support: NINDS (1K23NS091511-01) and The Muscular Dystrophy Association

Disclosure: Dr. Johnson has received research support from Biogen Idec and ISIS Pharmaceuticals. Dr. Hung has nothing to disclose. Dr. Dixon has nothing to disclose. Dr. DiBella has nothing to disclose. Dr. Pucillo has nothing to disclose. Dr. Berggren has nothing to disclose. Dr. Hayes has nothing to disclose. Dr. Chen has nothing to disclose. Dr. Butterfield has nothing to disclose. Dr. Heatwole has nothing to disclose. Dr. Campbell has nothing to disclose.

Wednesday, April 20 2016, 3:30 pm-5:30 pm

  • Copyright © 2016 by AAN Enterprises, Inc.

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • 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 Publishing Agreement 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
  • Info & Disclosures
Advertisement

Related Articles

  • No related articles found.

Alert Me

  • Alert me when eletters are published
Neurology: 99 (1)

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
  • Neurology: Education
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

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

© 2022 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise