Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • 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
    • Translations
    • Topics A-Z
  • 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
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • 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
    • Translations
    • Topics A-Z
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Articles
  • Issues
  • Practice Current
  • Practice Buzz

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Clinical Practice
Home
A peer-reviewed clinical neurology journal for the practicing neurologist
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues
  • Practice Current
  • Practice Buzz

Share

August 2017; 7 (4) Case

Adult-onset dystonia with marfanoid features

Scott A. Norris, Anja Pogarcic, Matt Hicks, Joel S. Perlmutter, Marwan Shinawi
First published September 2, 2016, DOI: https://doi.org/10.1212/CPJ.0000000000000297
Scott A. Norris
Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Anja Pogarcic
Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Matt Hicks
Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Joel S. Perlmutter
Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Marwan Shinawi
Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Adult-onset dystonia with marfanoid features
Scott A. Norris, Anja Pogarcic, Matt Hicks, Joel S. Perlmutter, Marwan Shinawi
Neurol Clin Pract Aug 2017, 7 (4) e31-e34; DOI: 10.1212/CPJ.0000000000000297

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
186

Share

This article has a correction. Please see:

  • Adult-Onset Dystonia With Marfanoid Feature - December 01, 2021
  • Article
  • Figures & Data
  • Info & Disclosures
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

A 43-year-old Asian American man with asthma and hypertension was referred to the movement disorder center with a 5-year history of gradually progressive action-induced ankle inversion followed by trunk tightness and painful neck twisting with right shoulder elevation. He was born in the United States and successfully graduated college as a B/C student with mild learning difficulties. He always had disproportionally long limbs and digits and at age 12 developed ectopia lentis (medial-inferior displacement). Numerous ocular surgeries were performed including intraocular lens exchange with iris fixation. Marfan syndrome was previously diagnosed based on physical findings. There was no family history of Marfan syndrome, marfanoid features, or early death due to aortic dissection. FBN1 mutations were not tested and serial echocardiograms demonstrated no aortic root dilation. Diagnosis was later refined to ectopia lentis syndrome per updated guidelines. At age 29, he required allograft repair of an anterior cruciate ligament following minor impact. Four years later, while walking, he had musculoskeletal trauma in the left foot with subsequent toe extension weakness. Nerve conduction studies confirmed absence of compound motor action potentials in the left peroneal nerve lateral terminal branch. At age 38, he developed left foot pain with tendency for dorsiflexion and ankle inversion when walking. Severity gradually progressed and tightness extended to the trunk within 2 years. At age 41, he developed elevation of the right shoulder and several weeks later rightward rotation of the neck and back. Dystonia gradually progressed. Symptoms were exacerbated by stress but not relieved by alcohol or muscle relaxers.

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

  • Supplemental data at Neurology.org/cp

  • Received May 20, 2016.
  • Accepted July 18, 2016.
  • © 2016 American Academy of Neurology
View Full Text

AAN Members

We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.

Google Safari Microsoft Edge Firefox

Click here to login

AAN Non-Member Subscribers

Click here to login

Purchase access

For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)

Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here 

Purchase
Individual access to articles is available through the Add to Cart option on the article page.  Access for 1 day (from the computer you are currently using) is US$ 39.00.  Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means.  The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use.  Distributing copies (electronic or otherwise) of the article is not allowed.

The Nerve!: 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
    • DISCUSSION
    • AUTHOR CONTRIBUTIONS
    • STUDY FUNDING
    • DISCLOSURES
    • Footnotes
    • REFERENCES
  • Figures & Data
  • Info & Disclosures
Advertisement

Preferences and User Experiences of Wearable Devices in Epilepsy A Systematic Review and Mixed-Methods Synthesis

Dr. Daniel Friedman and Dr. Sharon Chiang

► Watch

Related Articles

  • Adult-Onset Dystonia With Marfanoid Feature

Topics Discussed

  • Amino acid
  • All Genetics
  • Dystonia
  • Developmental disorders
  • Visual loss

Alert Me

  • Alert me when eletters are published
Neurology: Clinical Practice: 13 (1)

Articles

  • Articles
  • Issues
  • Popular Articles

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

Wolters Kluwer Logo

Neurology: Clinical Practice |  Print ISSN: 2163-0402
Online ISSN: 2163-0933

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise