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.
From the US Elyse reports that her summer has been very nice; the family travelled to northern Michigan, she went skydiving and celebrated her 35th birthday! Well done Elyse, you look terrific.
Mike Koutis of Winnipeg, Canada writes this inspiring account of his experience with NA: At 36 I was a normal healthy and happy guy. I had a rewarding career as a teacher, happily married with a house and was looking forward to my future. Then out of nowhere I began to make sounds with my throat. This was the beginning of my problems. Over the next 3 years I started to fidget and tic more and developed problems swallowing my food and my speech became harder and harder to understand. I don't remember how many doctors I visited and tests I did without results. Tourette's was ruled out as I did not have it growing up. I was a medical mystery.
Fast forward 4 years later. I am divorced, not able to work, on disability and living with my parents. I have been diagnosed with Neuroacanthocytosis. It's honestly a relief to know what I have. After researching NA I was astounded to read that I was 1 of only about 150 people in the world to have it. My symptoms include vocal tics, biting of my tongue, extreme fidgeting and weight loss as well as problems with my speech, walking and swallowing. The hardest part was having to tell my mom and dad about NA and that my expected life span is 10-20 years.
People may find this hard to believe but I view my disorder as a blessing. I now live life to the fullest and enjoy the simple things like eating an amazing dessert and being able to sit through a whole movie!! My life now has purpose and meaning...to bring joy and happiness to all my friends and family and make them smile. Sure I have down days but because of all the love and support of my friends and family I am usually smiling and happy.
I consider myself to be lucky. I'm not in pain (my tongue biting has disappeared) and due to medication I am not as fidgety and gaining back my weight. I can even sit through a 3 hr movie! My biggest concern is my eating. Specifically my swallowing problem. I make quite a mess when I eat but thanks to my amazing mom and all my new friends at the local Boston Pizza, I can go out and socialize. This is very important to me and not something I take for granted. I have joined an NA support group and become good friends with people from all over the globe who have been affected by this ugly disorder. Many of them have bothers and husbands with NA who have it worse than I...very little support and are either not physically able to or too embarrassed to eat out in public. How sad! I am truly blessed! I am an average guy with a positive attitude and just trying to educate all about Neuroacanthocytosis. SMILE AND LIVE!
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News of patient Ed Ayala from Massachusetts: If you read the RareConnect Neuro- acanthocytosis page you will know that ChAc patient Ed Ayala has written a book which has now been published. Ed lives in with his wife and family in southern Massachusetts. After being stricken with choreo- acanthocytosis (or ChAc), after ten years he was forced to retire in 2008 from UPS following 19 years of service. At age 43, he decided to pursue his dream of becoming an author despite the limitations of this disease.
In Ed's book, it’s 2011 and an elderly man living alone in Massachusetts finds a box while organizing his vast boxing memorabilia collection. The contents take his fading memory back 50 years to a gym he once operated called A Puncher’s Chance and its storied past, including World Champion Salvador Jimenez.. When a friend happens by, the old man takes the opportunity to retell his story. Over the next several days his surprisingly vivid recollection of the champ enthralls his friend, as he switches from past to present and back again. A tragedy occurs before the surprise ending that really packs a punch.
"For those of you who bought my book "A Puncher's Chance" I thank you and finally it's in the mail," says Ed. "For those of you who haven't, what are you waiting for (lol). But in all seriousness after you read it let me know what you think; be brutally honest cause 'I will be protecting myself at all times.' To order visit A Puncher's Chance.
From the US Elyse reports that her summer has been very nice; the family travelled to northern Michigan, she went skydiving and celebrated her 35th birthday! Well done Elyse, you look terrific.
News of patient Ed Ayala from Massachusetts: If you read the RareConnect Neuro- acanthocytosis 
