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.
Everyday tips for NA patients
Welcome to this new section in NANews specifically for patients. Here, we'll share non-medical techniques some patients find helpful for coping with some of the symptoms of NA, and we also share details about daily activities of patients and how they spend their time.
Raine Petersen writes from Australia to tell us how her brother Robbie used to overcome some mobility difficulties. To change channels on the TV, he had to rest his hands with the remote on top of his head or the remote would fly away. Getting out of bed was made easier by placing a bean bag next to the bed and he would roll onto it. Rubber padding was put on the walls of the shower so he would not injure his head when moving about.
Jane Donaldson has shared a treatment she uses with her daughter Sandra Schwartz in the US. Essential natural oils seem to be helping Sandra appear and feel calmer. Jane also massages her throat with "Wild Orange" for relaxation.
From an Israeli patient, father and therapist we have received the following:
"After five months of treatments with acupuncture and an herbal formula, we can now see Enav has more appetite, being more sociable and his laughter is back. He no longer spits and his tics are mostly gone. He sleeps without the need for pills. Enav's therapist is working to alleviate his tiredness and loss of some memory. We are all hopeful as Enav's changes have been beyond our expectations." We have subsequently heard that Enav has experienced some regression and symptoms have returned somewhat; they are still using acupuncture.
Acupuncture and NA
In rare diseases such as Neuroacanthocytosis (NA) it is extremely difficult to conduct the usual clinical trials of potential therapies, in which one group of people who receives the therapy, and one group that does not. Therefore we often have to rely largely on reports of therapies which have been tried in a single person, such as in the report above of a person with NA who had a positive response to weeks of acupuncture. This will inevitably provide hope for others but at this stage we advise caution.
It is very exciting to hear of anything which is beneficial in NA, even in a single patient. In order to learn more about potential benefits of acupuncture in NA, and to have greater confidence that this is something that other people might want to try, we would encourage the practitioner to provide longer term follow up of their patient (maybe by documenting using a video).
It would be useful to learn if there are improvements - or lack of worsening - in specific tasks that the person has difficulties with, such as writing, eating or tying shoe laces. This might provide some very interesting evidence of the efficacy of acupuncture in this severely debilitating condition that could then be tested further.
Raine Petersen writes from Australia to tell us how her brother Robbie used to overcome some mobility difficulties. To change channels on the TV, he had to rest his hands with the remote on top of his head or the remote would fly away. Getting out of bed was made easier by placing a bean bag next to the bed and he would roll onto it. Rubber padding was put on the walls of the shower so he would not injure his head when moving about.
