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.
Managing oral problems in patients with ChAc By Siamak Karkheiran MD, Movement Disorder Clinic, Hazrat Rasool Hospital, Tehran University of Medical Sciences, Iran
Patients with ChAc can suffer several problems involving the mouth, tongue and swallowing muscles due to involuntary movements. These disorders not only cause physical problems, such as lip- or tongue-biting, and weight loss, but can make people with ChAc feel very self-conscious when out in public, and in particular when eating in front of others.
Siamak Karkheiran MD, Movement Disorder Clinic, Hazrat Rasool Hospital, Tehran University of Medical Sciences, Iran.
Feeding dystonia, a characteristic feature of ChAc, is defined as expelling food when solid food touches the tongue. This is mainly due to involuntary movements of the tongue, known as “task-specific dystonia”, and makes eating a painstaking activity. Tongue biting, a very painful phenomenon, is due to tongue and oro-facial dystonia. In addition, lip biting is also common in ChAc. Compulsive behaviors and orofacial dystonia are two suggested mechanisms for lip biting. Tooth-grinding (bruxism), whether due to dystonia (muscle spasms) or habit, can result in rapid tooth decay and deep lacerations with possible lethal infections. Drooling is due to both severe swallowing difficulty and increased secretion of saliva.
There are few pharmacological and non-pharmacological treatments for these problems. Medications traditionally used for psychiatric problems, known as typical and atypical antipsychotic drugs have been used for controlling chorea. These drugs can reduce tongue/lip biting and improve swallowing. Tetrabenazine, which acts by depleting dopamine, is another option. Both types of medications can have the unwanted side effect of causing symptoms which look like Parkinson’s disease (parkinsonism) with recurrent falls and slowing of movement, especially in people with more advanced disease. The antidepressants known as the SSRIs are preferred drugs for controlling behavioral compulsions, and may reduce lip biting too.
Atypical antipsychotics (olanzapine, risperidone) and the antidepressant clomipramine can also have beneficial effects in controlling compulsive behaviors. Botulinum toxin injection into the tongue muscles (genioglossus, geniohyoid) and jaw (masseter) muscles can improve feeding dystonia, tongue biting and tooth-grinding. However, exacerbation of swallowing difficulties and increased risk of aspiration of food or liquid into the lungs are feared side effects.
Bite guards prevent severe tongue and lip biting and bruxism. Besides being a barrier, guards have "sensory trick" effects in reducing dystonia and (compulsive behaviors). For drooling, oral agents with anticholinergic effects, such as tricyclic anti-depressants, have limited effects.
Scopolamine patch and atropine eye drops
Two drugs seem effective in our experience - the scopolamine patch (sometimes used for sea-sickness) and atropine eye drops used under the tongue. The first drug is more convenient with better tolerance. The second one is cheaper and more accessible. Dry mouth is an obvious side effect and may adversely affect swallowing and need continuous dose adjustment.
Injection of Botulinum toxin type B (Myobloc) into salivary glands is another option, but it involves an injection, is expensive, and not available everywhere. One of our patients had an unusual problem of "itching tongue". We tried tongue brushing, different mouth wash solutions and some traditional drugs in vain. At last, 5 ml of diphenhydramine (12.5 mg) diluted in 100 ml of water administered as mouth wash twice daily reduced both itches and drooling.
Finally, in many patients, several measures should be considered simultaneously. Continuous monitoring, detailed history and examination in every visit are very important for adjusting drug dosage, selecting appropriate treatment and avoiding serious outcomes. Patience and commitment by patients and doctors are fundamental factors for managing these very difficult problems.
Important Note: The purpose of this article is to provide some suggestions for healthcare providers. No medications should be used without appropriate medical supervision.
