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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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Rare Disease Day highlights need for research
February's Rare Disease Day gave the NA Advocacy an opportunity to attend a special reception in Scottish Parliament designed to raise awareness among decision-makers of the need for systematic, properly funded research into rare conditions.
Iain Gray MSP with Sheila Averbuch from Advocacy for Neuroacanthocytosis Patients at the Scottish reception

Represented by NA News editor Sheila Averbuch, the Advocacy was in attendance and met with a number of researchers as well as families affected by rare disorders. Similar to the Advocacy, many families organise their own long-term initiatives, in partnership with clinicians, to interest and support researchers in examining the root causes of their conditions.

The success to date of the Niemann-Pick Disease Group in its initiative was heartening. Susan Green explained how she lost her elder son, Murray, to this rare childhood disease even as she and other affected families were helping organise researchers to investigate its causes. Following a number of years of investigation, two therapies have been developed in partnership with the drug companies Genzyme and Actelion, and these have significantly slowed the disease's progress in Susan's younger son, Roy.

Also presenting at the Scottish event was Sir Ian Wilmut, Director of the MRC Centre for Regenerative Medicine at the University of Edinburgh, best known for his groundbreaking work with Dolly the sheep. Dr. Wilmut stressed that important new techniques are available which may help researchers detect what exactly goes wrong to create genetic disorders. "We have the ability to give any cells the characteristic of embryo cells, which means they can survive and grow in vitro for a very long time and let us study them as they develop," Wilmut said. "We want to set up a system to look for the first signs of these diseases."

Rare Disease Day UK, which is organised chiefly by the Genetic Interest Group, is vocal in its call for proper strategic planning for rare diseases in the UK. It argues that a strategy should coordinate research, prevention, diagnosis and treatment of rare diseases, as well as information on rare diseases for patients and the public.  For details visit http://www.raredisease.org.uk/

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