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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.

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.
  • Search Google for the latest on NA
  • 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.

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NA News Issue 11
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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 communication.

 

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.

 

Swallowing 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 or Logopedics.

 

http://www.rcslt.org/ (The professional body for Speech and Language Therapists)

http://www.helpwithtalking.com/   (to find a private Speech and Language Therapist)

 

-- Debbie Bloch is a Specialist Speech and Language Therapist at the Kensington & Chelsea Rehabilitation Centre, part of the National Health Service, UK

 

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