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.
In memoriam Ann Lippincott, mother of the late Marika Ann Critelli who died in November 2009, contributes this poem which she wrote shortly after Marika was diagnosed. Thank you, Ann, for these insightful and beautiful words.
Marika Ann Critelli, Santa Barbara, 1995.
You wake up each morning Remembering the name of the diagnosis, Vowing not to let it define your day Despite the immediate reminders As you attempt to walk to the bathroom On legs that will not obey.
You begin each day Remembering the name of the diagnosis, Vowing not to let it define who you are Despite the immediate reminders As you attempt to swallow your oatmeal With a tongue that will not obey.
You go out into the world Remembering the name of the diagnosis Vowing not to let it impact your interactions with others Despite the immediate reminders As you attempt to engage in conversation With words that will not come.
You promise not to let the name of the diagnosis Define who you are, Despite the missing first line Of a poem that will not forget.
~ Ann Lippincott March 14, 2009
Gordon Abernethy
The late Gordon Abernethy, who was a McLeod Syndrome (MLS) patient for many years, died in March 2011. He was in the Orchar Nursing Home in Broughty Ferry near Dundee, Scotland. His doctors included Esther Sammler MD who is in contact with Adrian Danek and Hans Jung in quest of a better understanding of MLS. Mr. Abernethy left a legacy of £10,000 to the Advocacy to support the research project at Dresden Technical University and the on-going diagnostic service and clinical research at Ludwig-Maximilians Universität, Munich. We are very grateful for this important contribution.
