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
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.
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
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
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
Susan Hills sent this intriguing boat portrait from earlier days..
Susan Hills in England reports she "has bought a pop-up walk-in greenhouse in order to grow strawberries, tomatoes, peas, herbs and flowers. I also have some tropical fish and I love watching them swim, as it is nice and relaxing." Susan has not done any art for a while, but she sent this intriguing boat portrait from earlier days.
Ed Ayala from Norton, Massachusetts in the USA has authored A PUNCHER'S CHANCE, and he and his wife have announced they intend to donate 20 percent of gross profits from the book to NA research.
Ed and his granddaughter Avah Marley Carvalho
Ed writes, "On the back cover of the book in my bio I describe my condition and some symptoms, and then direct them to rareconnect.com for more info. The only caveat is I have to have pre-sold a minimum of 100 copies before getting published and paid royalties."
To support Ed, his book and NA research, please visit apuncherschance2013.com to order your copy, and please do let your friends know about Ed's book.
Elyse Weinbaum from Michigan writes to introduce herself and her family. "I'm 33, married, and a mother of 2 beautiful young girls ages 4 & 6. I was diagnosed with chorea acanthocytosis about 2 years ago. I suffer from seizures, foot drag, memory loss, vocal and physical tics; I constantly bite my lips, cheeks, gums, and tongue. So I wear a mouth guard, can't be in quiet places, wear out a ton of shoes, and no longer drive.
Besides that I do pretty well. I go to the gym 5 days a week, and work with a trainer so muscles don't get weak. I'm trying to spend more time with the children. I love traveling, I just went skydiving, and I really want to enjoy my life to the fullest."