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.
Can you recommend everyday tips for NA patients?
We are starting a new section in NANews specifically for patients and would really appreciate your input. We have shared information from patients about non-medical techniques for coping with some of the symptoms of NA but would also like to hear about daily activities of patients and how they spend their time.
We know David Nicholson has started attending a hospice with massage and physio benefits; Pete Clark joined the local Huntington's group and enjoys gardening with them; Alex Irvine works with an artist to produce watercolours (Susan Hills, Mardi Williams, Froukje Vlietstra have all shown their artwork in NANews); Ed Ayala has written a book about boxing; Mervyn Curry went fishing.
These are all examples of what our patients find enjoyable to do. Have you other activities you would recommend? Alex also enjoys puzzles: her tips include using blutack on the end of a puzzle to pick up puzzle pieces to put in her jigsaw.
We would love to share your tips and feedback with other patients. Could you tell us about your experience with the following?
Have you been on vacation? Where would you recommend? What are the challenges?
Do you use a computer, tablet or other device and would you be interested in playing chess or scrabble or another game on-line with other patients?
How do you prepare for doctors' appointments and which questions are most useful?
What foods do you find easiest to eat and what techniques do you use for keeping food in your mouth? Do you have special recipes you would like to share?
Do you have regular sessions with physios and/or other therapists?
Please send your experiences and suggestions to ginger@naadvocacy.org so we may share with others.
These are all examples of what our patients find enjoyable to do. Have you other activities you would recommend? Alex also enjoys puzzles: her tips include using blutack on the end of a puzzle to pick up puzzle pieces to put in her jigsaw.
