Two things I've found very helpful.
#1: I always keep a supply of cards that I give to EVERYONE, including health care people. It has my picture, contact and emergency information proper selling and type of ataxia, and a very brief explanation of what ataxia is and looks like.
#2: Prior to seeing a new Neurologist, I sent him this pdf, assuring him that, although it was probably old information to him, I was informed as well. He appreciated the information and not being treated as if he didn't know. He didn't.
FAQ NATIONAL ATAXIA FOUNDATION
FREQUENTLY ASKED QUESTIONS ABOUT...
Patients often ask the familiar question “What kind of
ataxia do I have?”. This document is intended to
provide patients, families, and their caregivers with
basic information regarding how doctors classify the
different forms of ataxia. Correctly defining the type
of ataxia is an important step in a patient’s evaluation
and can help guide their medical workup, suggest
potential treatment strategies, and even indicate if
appropriate clinical or research studies are available.
Many different terms have been used to describe ataxia
over the years and have fallen out of favor for various
reasons. The terms listed here are ones currently used
by many doctors who treat patients with ataxia.
Ataxia is a neurological symptom seen by your
physician during a physical examination. The
definition of ataxia is a specific problem with balance
and coordination not due to muscular weakness.Ataxia
can be caused by problems in the inner ear or nerve
damage in the legs, but most often ataxia describes
damage to a part of the brain called the cerebellum.
Doctors may also refer to this problem as cerebellar
Cerebellar ataxia is classified by its cause (see Figure
1). Unfortunately there are many causes and the
terminology can become confusing. In general, there
are two main classes of ataxia, acquired and genetic.
Two additional classes of ataxia, idiopathic and
unknown, are also sometimes used. It is not
uncommon for patients to undergo detailed medical
evaluations before their cause is known and their ataxia
can be properly classified.
Acquired ataxia has an external cause, meaning a
person develops it because of something that happens
during their life. This can include many different
problems and events such as vitamin deficiencies,
autoimmune conditions, some infections, exposures to
toxic substances or drugs (especially alcohol), various
cancers, and many many more.Acquired ataxias often
appear “out of nowhere” and the medical term used for
this is sporadic. Unfortunately, ataxias from all other
categories can also occur sporadically, so this term is
not useful to categorize the cause of the ataxia.
Acquired ataxias are important to recognize early
because, in some cases, they may be treatable.
Genetic ataxia has an internal cause, meaning it is due
to inherent damage in a person’s DNA (their “genetic
blueprint”).Aperson’s DNAis made up of 23 pairs of
chromosomes (one pair each from their mother and
their father) containing sets of genes which together
code for all the information which makes a person who
they are. People each have over 20,000 genes and we
now know of many specific examples where damage
to a certain gene causes cerebellar ataxia to develop.
Genetic ataxias often run in families (some doctors
may say it is a hereditary or familial ataxia when this
occurs) but can also be sporadic without a known
• If an ataxia passes from generation to generation it is
said to be dominant and is due to a single copy of a
defective gene passing from parent to child.
Dominant ataxias are most often seen in adults and
some can get worse each successive generation. The
most well-known dominant ataxias are the
spinocerebellar ataxias (or SCAs) such as SCA1,
SCA2, SCA3, SCA6, and SCA7, which are each
caused by defects in specific genes. SCA3 is the
National Ataxia Foundation
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NATIONAL ATAXIA FOUNDATION
most common of these worldwide. Specific genetic
testing is available for many of these diseases.
Because the term “SCA” is so widely associated with
dominant genetic ataxias, it should not be used to
describe a patient with an unknown ataxia (see
• If an ataxia is seen in a single generation (e.g., in
multiple children but not the parents) it is called
recessive and is due to two copies of a defective
gene, one passed from each parent (who are called
carriers) to the child. Often recessive ataxias are
seen in children but can also be seen in adults. The
most common recessive ataxia worldwide is
Friedreich ataxia. Specific gene testing is available
for many of these diseases as well.
• In most cases, genetic ataxias are progressive,
meaning that the symptoms get worse over time.
There are also a few forms with recurrent, or
episodic, ataxia symptoms that often seem to come
• Ataxia can be inherited in other ways also.
Mitochondrial ataxias pass from mother to child
through the defective mitochondria in the mother’s
eggs. X-linked ataxias are caused by a single
defective gene on one X-chromosome but are often
only seen in males (or are more severe) because
women have two X-chromosomes while men only
As more and more ataxia genes are discovered, more
and more genetic tests become available. In some cases
it may be useful to test a patient for problems in a single
gene, or even a select few genes. Because many genetic
ataxias can look alike (and other rare genetic diseases
can sometimes look like a genetic ataxia) more
extensive testing may be needed. Recently it has
become possible to examine all the genes in a patient at
once (this process is called “whole exome sequencing”)
and your doctor may suggest this. If genetic testing is
being suggested, it is always important to understand
the type of test being offered and what its potential
benefits and shortcomings are to your condition.
Idiopathic ataxia is a term used when doctors can
identify a specific kind of ataxia but don’t yet
understand medically or scientifically why a person
developed it. Multiple system atrophy (MSA) is the
most common of these. Idiopathic ataxias are often
sporadic. Many scientists and physicians suspect that
these types of ataxia have a combination of internal
and external causes, meaning certain gene problems
and certain life events are acting together, but this is
still under investigation.
Unknown ataxia is a term used when, despite all
possible testing, the cause of ataxia remains
undetermined. Unknown ataxias are usually sporadic
but could also describe familial ataxia if the affected
gene is not known. Eventually, as doctors learn more
about the different kinds of ataxia, it is hoped that all
patients with unknown ataxias will be definitively
assigned into one of the other categories.
It is very important for all patients with ataxia to seek
proper medical care. Often this may include a visit to
a specialist with expertise in neurology, neurogenetics,
medical genetics, or a related field. Youmay
be asked to have an MRI of your brain and various
blood tests. Patients with a known or suspected genetic
ataxia may also be asked to meet with a genetic
counselor. Patients with all forms of ataxia could be
asked to participate in research so doctors can better
understand the disease and learn new information to
The National Ataxia Foundation (NAF) is committed
to providing information and education about ataxia,
services to individuals affected with various forms of
ataxia, and promoting and funding research to find
more causes, better treatments, and, hopefully
someday, cures. NAF can help by providing
information for you, your family, and your physician
about ataxia. Please visit the NAF website at
www.ataxia.org for additional information, including a
listing of ataxia support groups, physicians who treat
ataxia, online chat groups, social networks, and more.
For additional questions please contact the NAF
directly using the information listed below.
The National Ataxia Foundation is grateful to Brent L. Fogel, MD, PHD