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:: How to recognise Neurocanthocytosis

The first signs of the diseases in the neuroacanthocytosis (NA) group are subtle and easily overlooked. Initial symptoms, which often occur in the person’s mid 20’s, may include grunts or tic noises made unconsciously in the throat, progressing to drooling and problems in controlling the tongue from ejecting food. Involuntary biting of the tongue, lips and/or cheeks may follow.

At the beginning there can be a general, slight physical awkwardness. Things on a shelf are knocked off for no apparent reason. Difficulty with walking and balance can also be early symptoms. Problems controlling trunk, leg and arm movements are often barely noticeable at the beginning, but become increasingly difficult as the disease progresses. Several patients find it difficult to sleep at night and others report fatigue and weakness.

Personality change may also be an early indication. The carefree young adult becomes obsessive-compulsive and uncharacteristically forgetful or just loses confidence or drive. Fainting or epileptic seizures may also occur. Mood changes may happen and a person often becomes isolated, in part out of embarrassment.

There are several reports of the problems beginning after a traumatic event including physical attack, unexpected failure of an exam and birth of a child.

CLINICAL SIGNS

A defining symptom that is not apparent is the spiky red blood cells, or acanthocytes, from which the NA disease group takes its name. These unusual blood cells can be observed with a microscope in some circumstances. Still more difficult to observe are the alterations or mutations in patients’ genes. Each of the NA group diseases has a different genetic characteristic that can be determined only by blood tests.

A person showing some of this pattern of symptoms should see a neurologist. Clinicians and patients can also visit www.naadvocacy.org for links to further scientific reports. Full details are also available on the free blood testing service offered by the Advocacy for Neuroacanthocytosis Patients, aimed at helping determine a definitive diagnosis for NA.



:: Useful NA Resources

  • Neuroacanthocytosis Syndromes II, published December 2007, the book provides a profound insight into recent developments within the field of neuroacanthocytosis syndromes. Edited by Ruth H. Walker, Shinji Saiki and Adrian Danek. Available at amazon.com
  • A Western blot test for the presence of chorein in the membranes of red blood cells can be offered free of charge due to support of the Advocacy for Neuroacanthocytosis Patients'. Download instructions on the blood sampling and specimen shipment as a PDF or get more information on the method at PubMed
  • The entry for chorea acanthocytosis in GeneReviews is the most complete, readily available report on ChAc. Published by the University of Washington with the support of the National Institutes of Health
  • A dedicated Patient & Families Support Group at Yahoo Groups offers patients and families information, advice, support or just an understanding ear
  • Visit PubMed for access to NA research in English from the Medline database.
  • Search Google for the latest on NA
  • Visit the NA page on WeMove, the Movement Disorder Societies charitable and educational associate



:: naadvocacy.org

naadvocacy.org is the website of the The Institute for Neuroacanthocytosis. It is the Advocacy's international centre for supporting patients and promoting clinical and basic research. The website provides access to resources found on the website.

  • Patients' Centre
  • Clinic
  • Library
  • Symposia
  • NA News
  • Research
  • Fundraising


:: Previous Issues
NA News Issue 17

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Visit the brand-new NA Advocacy website

The new look NA website
The new look NA website
Following significant development work, we've improved the NA Advocacy website www.naadvocacy.org with new features and enhancements that make it easier for our community to interact, including language translation services.

Here's some of what you'll find on the new site:
  • more colours    
  • easy to access info with tabs
  • photos
  • ideas for fundraising
  • reminders of things to do for NA
  • more patients' stories
  • ability to contact one another
  • more language pages
  • help for clinicians with their first patient who will find it easier to get information about diagnostic testing and the patients REGISTRY
  • information about current research work and details about research grant applications

We are very grateful for financial support from the Napier Fund of St Columba's Church of Scotland for the new design by Ben Mango.

The new website improves the way we in the NA community can discuss things while assuring that participants may if they wish prevent their story and identity from being released. Messages can also be translated into five European languages.

To find the message facility go to the new Advocacy website www.naadvocacy.org and then on the right side click on PATIENTS CENTRE. To register click on the JOIN THIS COMMUNITY button at the upper left and type your User name and password. Then sign on!

Next you can add to and edit your PROFILE and add a photo.  To control who may see your profile there is a dropdown box that allows for PRIVATE (members only), FRIENDS (that you have approved) or PUBLIC (anyone).

Each time you post a message the box marked PRIVATE at the bottom left allows you to choose if your message may be read only by registered members, choose PRIVATE, FRIENDS only or by anyone who comes to the site PUBLIC. We will screen applications so that you can, if you wish, send messages that only patients, their families, members of the Advocacy and health professionals will be able to read. .
Be one of the first members. Give it a try! Visit http://www.naadvocacy.org

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