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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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Ana Maria Palomo Argenta, husband Ezequiel, daughter Lucia and son Jesus
Ana Maria Palomo Argenta and husband Ezequiel in Madrid are pictured here celebrating their 9 year old daughter Lucia's First Communion with their son Jesus, 5 years old.

Pamela Korb from Eurfurt, Germany writes about the importance of a schedule that keeps her active, but is not so demanding that it sets her back.  Every week she has a session with a speech therapist who helps her relax the mouth muscles in ways that will stop her from biting her tongue and expelling food from her mouth. At her weekly physiotherapist appointment Pamela works to gain more security in walking.  With the help of a walking frame, Pamela is very mobile and can get out on her own to swimming, shopping, visiting friends -- even mowing the lawn in the family garden.

As with many patients a poor night’s sleep or worries create stress and setbacks.  She is grateful for her parents’ support and concern for her happiness and well being and for her friends who come to visit. Pamela’s exuberant personality and enthusiasm for life is such a contrast to the chorea-acanthocytosis, but with courage and humour she says, “I have the disease, it does not have me.”


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Marika, a ChAc patient in California

Marika, a ChAc patient in California, has completed a one mile charity walk in Golden Gate Park. Her mother Ann writes that given Marika's difficulties with ambulation, that represents at least a 10K walk! When she was a fourth year university student in Madrid, she completed the Camino-Santiago walk across Northern Spain from near the French border to Portugal. Her inclination to keep walking is still very high.


 

Susan cropped
Susan Hills enjoying a family holiday in Murcia, Spain

Susan Hills, who lives in northern England, was able to enjoy a family holiday in Murcia, Spain in July. "I have been to Spain for 12 days it was really nice, a change from home,” she writes. “We stayed in my sister's new villa and had a lovely time."

 

Recently Alex Irvine and Pete Clark, both ChAc patients in Southeast England, met at the National Hospital in London for a chat. Pete was accompanied by his mother Sheila to the botox clinic, where he finds the three-monthly injections helpful in controlling his jaw, especially in not biting the inside of his mouth. He was pleased to try out Alex's Lightwriter machine: typing in a sentence or phrase and then pushing a button causes a voice to speak her words.

NA News Picture
Alex Irvine and Pete Clark met at the National Hospital in London for a chat

Pete has a wise outlook about his condition: "I am slowly beginning to learn to think in terms of what I have achieved in a day, rather than the long list of things I could have done in the past,” he said recently. “Reducing my expectations also reduces my levels of stress."

Alex was happy to share her experience with the Lightwriter and her latest solution to drooling: scopoderm patches usually used to prevent nausea has made her mouth drier and therefore less prone to drooling.

Both Pete and Alex agreed to meet again when future appointments make it possible.

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