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
Speech expert offers insights on NA patient challenges
As a Speech and Language Therapist working with NA patients,
I work to help patients and their families understand more about the communication
and swallowing difficulties common to these diseases, and how they might better
manage their condition.
As NA patients and their families know, communication
difficulties can affect how someone is able to express themselves, access their
community, engage in work or leisure activities and interact with family and
friends. Changes to the muscles that control the tongue, lips, cheeks and voice
box can make speech difficult to understand (dysarthria). Dysarthric speech may
be slurred, slow, quiet and monotonous: some people may have difficulty getting
sound out at all, while some may have dysfluent speech (stammer/stutter) as a
result of their dysarthria.
Changes to cognition (thought processes) can also occur in
NA. Reduced initiation, attention and
concentration difficulties, word finding difficulties, apathy, and difficulty
ordering thoughts, planning and reasoning can all affect communication effectiveness.
What can be done?
As NA is a progressive disorder, direct work on improving
muscle control or cognition may not yield great improvement, and will not halt
the overall decline. However there are some treatments that can improve speech
directly in certain cases, and your Speech and Language Therapist can assess
whether these treatments are suitable for you.
A general principle is for your therapist to help you aim
for compensated intelligibility by maximising your possible communication potential
within your current abilities. Your therapist will assess which strategies will
be most effective for you and can work with your listeners to educate them to
support your communication.
Speech and Language Therapists and Neuropsychologists can
also advise on strategies to help with the impact of cognitive impairments on
For some people Alternative and Augmentative Communication
(AAC) may be appropriate. This is any method of communication which supplements
or replaces speech, from a low-tech communication board to a high-tech voice
output aid such as a Lightwriter
or Say-it-Sam. Your computer
can also be adapted into a voice output aid. When considering AAC, it is very
important to be assessed by a Speech and Language Therapist, who can suggest
the most appropriate equipment for you.
difficulties in NA
Changes to the muscles of the mouth and throat, and
primitive reflexes such as tongue thrusting that are associated with NA, can
make eating, drinking and swallowing problematic. There can also be serious
consequences of malnutrition, dehydration, choking and aspiration pneumonia.
Your therapist can advise you on consistencies of food and
drink, equipment and strategies that will make eating and drinking more pleasurable
and safer. They may also discuss alternative ways of feeding such as via an
enteral tube (PEG/RIG). You would make the decisions to have alternative feeding
with the multi-disciplinary team and your consultant.
Find a Speech and
Language Therapist to help you
If you have not yet explored working with a Speech and
Language Therapist, doing so can provide practical advice that supports your
coping strategies. UK
patients can access Speech and Language Therapy via their local NHS trust or GP
and may also find the websites below helpful. Outside the UK, these
specialists may be known as Speech Language Pathologists, Speech Pathologists
http://www.rcslt.org/ (The professional body for Speech and
http://www.helpwithtalking.com/ (to find a private Speech and Language
-- Debbie Bloch is a Specialist
Speech and Language Therapist at the Kensington & Chelsea
Rehabilitation Centre, part of the National Health Service, UK