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.
Mardi Williams' painting. For more photos from Issue 19 of NA News visit our Facebook Page.
Mardi Williams who resides in Brisbane, Queensland, Australia tells us she has been visiting with her nephew Joshua and niece Gabrielle. Her brother-in-law Rob and Joshua got her new iPod touch working after some mishaps and she enjoys playing games and listening to music. She and her mum also looked after her sister's dog while they were away. We are pleased to correspond with any other NA patients who also wish to show us the fruit of their labour.
Froukje Vlestra's painting. For more photos from Issue 19 of NA News visit our Facebook Page.
Froukje Vlestra and her friend Arend Eedema made the journey from the north of The Netherlands to attend the afternoon session of the Symposium. At this special session, specifically aimed at patients and patients' advocacies, Froukje and Alex Irvine communicated on their talking machines and enjoyed one another's company. We hope to promote more communication between patients: visit the website.
"Our Patients", which allows subscribers to correspond, and access any information translated into five different European languages.
Pete Clark tries out gliding. For more photos from Issue 19 of NA News visit our Facebook Page.
Pete Clark, who lives in Essex, met with Alex and Glenn Irvine in London and reported how he spent this year. Pete benefits from botox injections 4 times a year to help with his speech and eating. He is a thorough patient who writes a report for the doctors of the previous month's activities and changes in medication. Keeping a running history of an NA patient's symptoms and treatments is a valuable contribution to our knowledge of the course of this ultra rare disease. In addition to his gardening activity Pete is writing poetry and has joined a website where his work is published. Here's one we thought you would like:
Time To Talk
Thank you all for giving me help and for giving me hope Together, with fun and laughter, we are learning to cope
When you talk to me, there is no need for you to shout Just give me enough time and I'll get my words out Give me time - that's what you should do Beware - for tomorrow it could happen to you
By Pete Clark, Southend Speakability Group
David Nicholson with Benjy and his mother. For more photos from Issue 19 of NA News visit our Facebook Page.
David Nicholson reports that since his DBS surgery last year, "I am much better and can go out of the house and do things that I couldn't have done before.
The only problems are my balance, shuffling while walking and my speech."We wish David well in his continuing ability to live life to the fullest.
