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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.

  • Patients' Centre
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New trustees join the Advocacy to augment business development capabilities

The Advocacy is delighted to announce two new additions to the management board: Eva Stock and Amin Somji.

Eva Stock
Eva Stock
Eva Stock was born in Boston, MA and grew up in Pittsburgh, PA.  She originally came to London via Brussels as a graduate student nearly 20 years ago. Having started her career in financial services working in marketing and new product development, Eva took an extended break when her children were small.  More recently, she works at FOCUS, a membership organisation for ex-pats in the UK which operates as a non-profit. At FOCUS Eva has had roles in Marketing and on the Editorial team, and is currently Director of Sponsor Relations. She brings significant marketing and business development expertise to the Advocacy Board, including social networking experience.


Amin Somji
Amin Somji
Amin Somji was born in Zanzibar and spent 14 years in Tanzania before he went to study in Pakistan and the UK. He trained as a Chartered Accountant in the UK and has an MBA from Cranfield in addition to a Masters in Marketing from Kingston, UK. Amin has worked as a consultant for 15 years and has had clients as diverse as BP and RoadChef, the motorway services company. Amin's business experience across industries and in various roles will be invaluable to the Charity as it steps up to reach a platform for further growth. Now located in Kenya, Amin will continue to support the Advocacy in its ongoing work.

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