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.
FUNDRAISING UPDATE Warm thanks for the efforts and generous support of everyone who donated on-line to the Advocacy’s work during the BigGive campaign December 2012. The result was a magnificent £36,000. This included our Pledgers who agreed to match donations up to £7,000 as well as £7,000 from our Champion, Candis magazine. The funds far exceeded the £20,000 raised in the BigGive in 2011. We are very grateful to the organizers of the BigGive campaign team that is supported by the Reed Foundation. Since we are all volunteers, 100% of funds raised go to research. The BigGive has allowed the Advocacy to pledge support to vital research programmes that are progressing to find therapies for NA. Sincere thanks from all of us whose lives are affected by NA and from the researchers who, through your generosity, now have the support to search for causes and a cure.
Ginger and Glenn Irvine presented a certificate of thanks (designed and printed by patient Alex) to David Lewis, Head Gardener and club organiser.
At the Virgin-owned Roof Gardens the Gardening Club met in January when Ginger and Glenn Irvine presented a certificate of thanks (designed and printed by patient Alex) to David Lewis, Head Gardener and club organiser. Our thanks go to David and Virgin for supporting NAAdvocacy with a marathon run, club meetings and raffles and GiftAid. The total donation was just over £3000.
A close shave for NA.
Can you think of a creative fundraiser to support NA? Cumulatively, these fundraisers allow us to support essential work of researchers during the coming year. Last year's corporate sponsorship of NA (Virgin and Free School London office) shows just how successful these initiatives can be. Are you, or others you know, seeking a charity for whom you can run, walk, row, sail, cycle, parachute jump, wash cars, play golf, darts, bridge, sell plants, books, baked goods, or greeting cards, or organise Workplace Giving Programmes or art exhibitions? An NA Advocacy fundraiser can take any shape or form! The on-line donation site is ready to go for any project. For ideas or assistance, contact ginger@naadvocacy.org.
