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.
The Big Give is an annual challenge which provides more than more than £1 million to match donors' gifts to charities like the NA Advocacy. Can you support us with any amount on December 6? Here are eight important facts you need to know about the Big Give 2012
The Big Give
1. You only get one chance this year so don't miss it! The Big Give is fully funded by the Candis Magazine and the Reed Foundation but if you don't donate on December 6, 7, or 8, you won't get another chance until 2013. If you want to support NA research, this is an excellent opportunity.
2. The early bird gets the funds – set your alarm for 10 AM Big Give online donations are matched on a first-come, first-served basis, and many charities are competing for the matching funds. If you're donating, please go on-line promptly at 10am on the morning of the 6th December. Your online donation will be matched as long as there are matched funds still available. If the matching has closed, please try again at 10am on December 7th or 8th.
3. The Big Give has made a huge contribution to NA research Money we've raised from the annual Big Give has let the Advocacy make grants to researchers of up to £40,000. We're delighted that more academic scientists are curious about our rare disease, and how the absence of a protein leads to brain cell death which in turn creates severe movement disorders. But we need to support those researchers with ready funds, and the Big Give helps us tremendously. We really couldn't do without it.
4. You can pay with all major credit cards and debit cards The following card types are accepted: Mastercard / Visa / Maestro / Switch / Solo / Delta / American Express
5. You can make a donation from abroad Do you have any of the debit or credit cards mentioned above? If so, you can donate in the Big Give regardless of where you're located in the world. But don't forget the Big Give starts at 10AM Greenwich Mean Time, which is five hours ahead of New York (Eastern Standard Time) and one hour behind Germany (Central European Time).
6. Your gift up to £5,000 may be doubled Up to £5,000 will be matched per donor to any given charity. Donations over this amount will have the first £5,000 doubled (if funds are available) and the surplus will be processed as a normal unmatched donation.
7. If you give a donation off-line, it doesn't qualify for doubling Sorry, off-line donations aren't doubled during the Big Give; matching funds are only available for the online donations made during the three-day period.
8. UK taxpayers can increase their donation with Gift Aid If you are eligible, you can claim Gift Aid on your Big Give donation itself, although the Gift Aid can only be claimed in relation to your actual donation, and not on the matched amount as well - you can read more about claiming Gift Aid on the HMRC website
