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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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New resources for NA patients and caregivers
In addition to the resources that we always show in the front page margin of NA News, there are several new information sources you may find valuable.

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Swallow safely: Medical Practitioners in the US have been working with the Parkinson's community to launch a new book, "Swallow safely: how swallowing problems threaten the elderly and others. A caregiver's guide to recognition, treatment and prevention." Like Parkinson's patients, NA patients frequently suffer difficulty in chewing and swallowing, and caregivers may find many of the insights pertinent to their situation. More information is available at SwallowSafely.com, or read the full story about the book launch, including interviews with co-authors Drs. Roya Sayadi Joel Herskowitz, at the Northwest Parkinson's Foundation.

Physiotherapy Guidance Document: The European Huntington's Disease Network has published this comprehensive handbook, and due to the similarity of symptoms between NA and HD, the insights on areas like the potential benefits of physiotherapy may be quite useful for NA patients' physiotherapists. The handbook also looks at physiotherapy management and treatment. Contact Lori Quinn by email for further information.

A Caregiver’s Guide to Huntington’s Disease: Available online and designed to support the caregiver, this Huntington's Disease resource is equally applicable to NA caregivers. It covers topics like Living with a Movement Disorder, Nutrition, Cognitive Problems and Working with Medical Professionals. Download the Caregiver’s Guide to Huntington’s Disease as a PDF file or contact the Advocacy and we will send you a copy.

CaringBridge: this resource provides free websites that connect people experiencing a significant health challenge to family and friends. CaringBridge websites are designed to offer a personal and private space to communicate and show support; authors can add health updates and photos which let them share their story, and visitors can leave messages in the guestbook. For more information visit the CaringBridge website


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