Adult-onset dystonia with marfanoid features
Citation Manager Formats
Make Comment
See Comments
This article has a correction. Please see:

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
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.
AAN Non-Member Subscribers
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
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
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.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg
► Watch
Related Articles
Topics Discussed
Alert Me
Recommended articles
-
Resident and Fellow Section
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiencyGerarda Cappuccio, Carla Cozzolino, Giulia Frisso et al.Neurology, July 14, 2014 -
Articles
Reduced brain choline in homocystinuria due to remethylation defectsF. -G. Debray, Y. Boulanger, A. Khiat et al.Neurology, June 30, 2008 -
Resident & Fellow Section
Clinical Reasoning: A 14-year-old girl with headache, seizures, and confusionLijun Xiao, Wenping Gu, Bin Jiao et al.Neurology, January 07, 2019 -
Article
Analysis of 70 patients with hydrocephalus due to cobalamin C deficiencyRuxuan He, Hongwu Zhang, Lulu Kang et al.Neurology, September 17, 2020