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.
Over the summer months Alex worked on a watercolour painting of the garden for her mother's birthday: matted and framed, it hangs near the garden and brightens the room. Working with an artist every few weeks has encouraged Alex to be more creative, and she has learned many painting techniques which she has been able to employ in new works.
Alex completes another massive jigsaw puzzle.
Alex also completed two more jigsaw puzzles, both depicting British celebrations. Her walking has changed a little bit but she is still managing the stairs. Visiting friends outside of London has provided a change of scene and cooking! Alex also provides a valuable service by writing to some French speaking patients, mostly in Canada.
Ezequiel and Ana.
Ezequiel writes from Madrid that he found someone to take Ana to the therapy centre, where she finds speech and physio therapies plus psychological assistance of great help. The photo is of the two of them near the royal monastery built by Felipe II after the French-Spanish battle of San Quinton in 1557. Both Ana and Ezequiel have sent blood samples to both Vienna and Cambridge research projects, for which we are very grateful.
Yolanda Tebar.
Yolanda Tebar from Spain has written to the Patients page on Rare Connect. She tells us of her experience of "Living with Neuroacanthocytosis in Madrid." Yolanda is 39 years old and was diagnosed with NA when she was 25. Seven years ago Yolanda had an DBS-like operation which has allowed her to perform more everyday activities on her own, although she still uses a wheelchair. We welcome Yolanda to our community and as her wish is to correspond with other NA patients, please share your experiences with her. To read Yolanda's full story please see: Yolanda on Rare Connect.
Elyse with her husband Chad.
Elyse Lakritz Weinbaum from Michigan writes to say, "Emily is my oldest. She is 6 1/2 will be 7 in November. Ilana is my baby and turns 5 also in November. I'm still biting my lips and wearing through shoes. But really enjoying spending time with my husband Chad and kids; the children have been at camp this summer and I am enjoying golfing."
Ed Ayala from Norton, Massachusetts in the USA has authored A PUNCHER'S CHANCE, and he and his wife have announced they intend to donate 20 percent of gross profits from the book to NA research.
Ed and his granddaughter Avah Marley Carvalho
Ed writes, "On the back cover of the book in my bio I describe my condition and some symptoms, and then direct them to rareconnect.com for more info. The only caveat is I have to have pre-sold a minimum of 100 copies before getting published and paid royalties."
To support Ed, his book and NA research, please visit apuncherschance2013.com to order your copy, and please do let your friends know about Ed's book.
Gabrielle Mardi and Joshua.
A new painting from Mardi Williams.
Mardi Williams wrote in the summer (her winter in Australia) that she and her family watched Wimbledon tennis and were cheering for Andy Murray. They had been to the Brisbane International in January. Mardi's niece and nephew have turned 15 and 10 and they watch them play soccer on the weekends. Mardi is still producing lovely paintings.
