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:: How to recognise Neurocanthocytosis

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.


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 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
  • 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.
  • Search Google for the latest on NA
  • Visit the NA page on WeMove, the Movement Disorder Societies charitable and educational associate

:: 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.

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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
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.
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