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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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PATIENT FOCUS
Elba Nidia Figueros Nieves


Elba Nidia Figueros Nieves

Nidia lives with her husband Juan Carlos Santiago and three children in Puerto Rico. Nidia was a teacher before she became ill; she loves to read and socialise with their local church group.

Her family wrote to say that they are "learning a lot and looking at life differently, increasingly valuing what we have and trying to enjoy it the most...The naadvocacy.org website was and is very helpful. It allowed us to gain access to information, genetic testing and corresponding with others.

Thanks to the Advocacy we have been in contact with highly qualified and committed people who are working to support people with this condition".


Froukje Vlietstra

Froukje, 41, lives in Drachten in The Netherlands and was diagnosed with ChAc when she was 32. An accomplished artist, Froukje recently had 30 of her works selected for an exhibition in her nursing home. Froukje receives individual support twice a week which she mostly uses for painting. Her attendant helps by preparing all material, enlarging colouring pages as guidelines and taping the pencil to her finger.

"I'm in possession of a Lightwriter and because I can’t walk very far; I also have a wheelchair," Froukje writes. Every three months Froukje gets four injections on both sides of her face. She says the injections are painful, but they do help somewhat: "I no longer bite my lip, check or tongue till it starts bleeding," she says.

Froukje Vlietstra and Arend Eedema
Froukje Vlietstra and Arend Eedema


To prevent biting, Froukje usually holds a washcloth in her mouth, which she takes out only for eating, drinking and smoking. She tells us her medications include Citalopram, Seroqel, Akineton, and Dornicum for sleeping. A peg-probe provides her medication and nutrients to keep her weight up.

In addition to her artwork, Froukje enjoys playing the piano and writing poetry, and most days her close friend Arend Eedema visits; they usually go out once a week and have also visited Disneyland in Paris. "I had a lot of fun and I’ve been in all the scary rides," she explains, but adds that she'd like to return to see the rest of the attractions. Froukje's parents also visit her each week.

Pete Clark

Pete reports that the botulinum Toxin injections continue to work very well and he visits Queen Square in London every three months for this procedure. He is eating well although his tongue does continue to push food out; his speech therapist is looking for ways to help. Pete feels his balance and walking have improved but agrees there can be considerable variation from day to day due to different causes, including less sleep and overworking at his allotment garden. But his physiotherapist is pleased with his improvements and determination. Pete thinks that exercising to build up stamina has helped, and he has had a great reduction of the severe jerking movements of his head back and forth. He sends his best wishes to all NANews readers.

Froukje Vlietstra

 

Froukje, 41, lives in Drachten in The Netherlands and was diagnosed with ChAc when she was 32. An accomplished artist, Froukje recently had 30 of her works selected for an exhibition in her nursing home. Froukje receives individual support twice a week which she mostly uses for painting. Her attendant helps by preparing all material, enlarging colouring pages as guidelines and taping the pencil to her finger.

 

"I'm in possession of a Lightwriter and because I can’t walk very far; I also have a wheelchair," Froukje writes. Every three months Froukje gets four injections on both sides of her face. She says the injections are painful, but they do help somewhat: "I no longer bite my lip, check or tongue till it starts bleeding," she says.

 


Froukje, 41, lives in Drachten in The Netherlands and was diagnosed with ChAc when she was 32. An accomplished artist, Froukje recently had 30 of her works selected for an exhibition in her nursing home. Froukje receives individual support twice a week which she mostly uses for painting. Her attendant helps by preparing all material, enlarging colouring pages as guidelines and taping the pencil to her finger.

"I'm in possession of a Lightwriter and because I can’t walk very far; I also have a wheelchair," Froukje writes. Every three months Froukje gets four injections on both sides of her face. She says the injections are painful, but they do help somewhat: "I no longer bite my lip, check or tongue till it starts bleeding," she says.

To prevent biting, Froukje usually holds a washcloth in her mouth, which she takes out only for eating, drinking and smoking. She tells us her medications include Citalopram, Seroqel, Akineton, and Dornicum for sleeping. A peg-probe provides her medication and nutrients to keep her weight up.

In addition to her artwork, Froukje enjoys playing the piano and writing poetry, and most days her close friend Arend Eedema visits; they usually go out once a week and have also visited Disneyland in Paris. "I had a lot of fun and I’ve been in all the scary rides," she explains, but adds that she'd like to return to see the rest of the attractions. Froukje's parents also visit her each week.

To prevent biting, Froukje usually holds a washcloth in her mouth, which she takes out only for eating, drinking and smoking. She tells us her medications include Citalopram, Seroqel, Akineton, and Dornicum for sleeping. A peg-probe provides her medication and nutrients to keep her weight up.

 

In addition to her artwork, Froukje enjoys playing the piano and writing poetry, and most days her close friend Arend Eedema visits; they usually go out once a week and have also visited Disneyland in Paris. "I had a lot of fun and I’ve been in all the scary rides," she explains, but adds that she'd like to return to see the rest of the attractions. Froukje's parents also visit her each week.

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