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.
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.
SanjayMadan writes from San Diego, California that he was diagnosed with ChAc in 2008. While he has difficulty with eating and walking he does exercise in the form of walks with many rests. He keeps his mind working by learning two words a day on the Wordsmart web site and playing quizzes at the Freerice web site. This site gives quiz questions where every correct answer donates 10 grains of rice through the UN World Food Program to help end hunger.
Sanjay also memorises Biblical quotes, practices meditation and reads motivational books. Sanjay has many suggestions for other resources so be in touch at sanjay_madan10@yahoo.com
Jon with his mother India and sister Helen
Jon Pedersen has moved from the house of his mother India to an assisted living facility in Virginia with the help of Jon's sister Helen and Helen's husband Jim. Jon made the move in April last year, has gained weight and enjoys new socialisation in the facility, which is a small home offering excellent care. Jon is visited by India as well as by his former wife Suzanne and his daughter Jessica.
Mark Williford
From Florida Mark Williford's wife Joy reports that Mark has a practiced schedule: water aerobics is enjoyed most mornings, while babysitting his grandson and volunteering for Habitat for Humanity and his local hospital fill the other hours. Reading is a favourite pastime. Mark was so pleased to be able to escort his daughter Katie down the aisle at her wedding last March.
Nidia Santiago from Puerto Rico
From Puerto Rico Nidia Santiago's husband Juan Carlos writes that the family (including three children) is in the process of adapting to the changes imposed by NA, learning a lot and looking at life differently. Juan Carlos says, "We are increasingly valuing what we have and trying to enjoy it the most." They have been in touch with another NA patient and family and hope to meet up with them soon.
Nidia also helps her daughter with her homework and says she feels "fine and in good spirits."
Kristi Curtis' husband John reported from Indiana in the US: "Kristi is doing well. She is able to walk with the aid of a cane. To go shopping, she must use a wheelchair. Her manual dexterity has gotten worse. I do most of the kitchen chores, but she can still do some cooking for me. She primarily drinks smoothies or chocolate shakes, but she can eat breadsticks or dinner rolls. She also like cinnamon rolls and doughnuts on weekends! She continues to exercise and do dexterity drills. The doctor has given us a referral for speech therapy to learn about the Lee Silverman technique. It appears to be exercises that help with forcing the air from the lungs through the wind pipe to make her speak louder."
Ed Ayala from Massachusetts
Ed Ayala from Massachusetts has written a powerful first-person account of life with NA. To read the full version, including a struggle many patients will recognise -- getting a confirmed diagnosis -- click here: My Gift.
