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.
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.
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
