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FA
Joseph (After Dad) "Joe" (as adult) "Joey" (as child) Richard (After Grampa) Thell
November 29, 1981 - November 14, 2008
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National Ataxia Foundation FAQ
FREQUENTLY ASKED QUESTIONS ABOUT...
Friedreich’s Ataxia (FRDA)
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| What is Friedreich’s ataxia (FRDA)? |
Friedreich’s ataxia (FRDA) is an inherited
disease of the central nervous system. It was
named after Nikolaus Friedreich, who first
described it in 1863, and it was the first form
of hereditary ataxia to be distinguished from
other forms of ataxia.
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| What are the symptoms of FRDA? |
Difficulty with balance (disequilibrium),
impaired coordination of the legs or
arms, and thick or slurred speech
(dysarthria) are usually the first symptoms of
Friedreich’s ataxia.
Over time, problems with coordination and
speech are likely to worsen. Curvature of
the spine (kyphoscoliosis) and high arches
in the feet (pes cavus) commonly develop.
Affected individuals might notice difficulty
knowing where their feet or hands are in
space (impaired position sense) and they may
develop weakness in the legs and hands.
Enlargement of the heart, irregular
heartbeat, or other symptoms of heart
trouble (cardiomyopathy) occur in many
individuals with Friedreich’s ataxia. Heart
problems range from mild to severe. Diabetes
mellitus is not uncommon.
Later in the course of the disease about 10
percent of individuals with FRDA have hearing
loss, and a similar percentage develop loss
of visual acuity or changes in color vision.
Another late-stage symptom in about 50
percent of affected people is difficulty with
bladder control (incontinence).
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| What causes FRDA? |
Friedreich’s ataxia is a genetic disorder,
which means it is an inherited condition. It
is caused by an abnormality of a single gene
called the Frataxin, (FXN) gene. The abnormality
can be passed from generation to
generation by family members who carry it.
Inherited diseases like FRDA occur when one
pair of the body’s 100,000 genes does not
work properly. (Genes are microscopic
structures within the cells of our bodies that
contain instructions for every feature we
inherit from our parents. Two copies of each
gene are inherited, one copy from the mother
and one from the father.)
FRDA is autosomal recessive, which means
that an individual only develops symptoms
of the disease if both copies of his or her
frataxin gene are not working properly. An
individual who has one copy of an altered
or nonfunctioning FXN gene does not
develop any neurologic symptoms and is
called a carrier. In people who are carriers,
the normal frataxin gene compensates for the
nonfunctioning copy of the gene. However,
a child whose parents are both carriers can
inherit a “double dose” of the altered FXN
gene and will therefore develop FRDA.
Most of the time carriers have no idea that
they have an abnormal FXN gene because
there are no symptoms or medical problems
that go along with being a carrier. It is often
only when a child is diagnosed with FRDA that
the parents learn they are both carriers.
When both parents are carriers, each of their
children has a 25 percent chance of having
FRDA and a 50 percent chance of being a
carrier. The illustration above shows how an
autosomal recessive disorder like Friedreich’s
ataxia can be passed on.
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| When do FRDA symptoms appear? |
Males and females are equally likely to
inherit the genes that cause FRDA. Symptoms
usually begin between ages five and 25 but
occasionally appear in younger children or
adults in their 30s or 40s.
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| How common is FRDA? |
FRDA is the most common form of childhoodonset
ataxia. In the United States it is
estimated that about 1 in 100 people is a
carrier of the altered FXN gene and one
out of every 20,000 to 50,000 is affected with
Friedreich’s ataxia. In some regions or ethnic
groups this number might be a little higher or
lower.
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| How is the diagnosis made? |
When symptoms resembling those of FRDA
appear it is important to receive a thorough
medical evaluation by a neurologist.
Generally, an evaluation will involve a
physical exam and tests to search for
abnormalities in the brain and spinal cord.
Many of these tests are done to rule out
other possible causes of symptoms. (Other
possible causes might include nutritional
deficiencies, infections, multiple sclerosis,
herniated disk in the neck, stroke, brain and
spinal cord tumors, and other degenerative
diseases.)
Some tests that might be included are a CT
or CAT scan (a sophisticated x-ray technique
for imaging the brain or spinal cord), an
MRI (magnetic resonance imaging of body
tissues, including the brain and spinal cord),
and EMG (electromyography, a test that
records the electrical activity of muscles
and nerves). Depending on the symptoms
present, other tests might be done such as
analysis of spinal fluid, blood, and urine.
Appropriate specialists may be consulted
such as a heart specialist, ophthalmologist,
audiologist (hearing specialist), orthopedist
(bone doctor), urologist, or endocrinologist
(diabetes).
Since the discovery of the FXN gene in
1996, it has been possible to make a specific
diagnosis of FRDA by a gene test. In almost all
cases, scientists are able to identify the
abnormality in the frataxin gene that causes
FRDA. The FXN gene is responsible for
directing the production of the frataxin
protein, which is one of the thousands of
proteins needed for the body to function
properly. Levels of frataxin in the spinal
cord and brain are much lower than normal
in individuals with FRDA. However, it is more
practical to test the FXN gene in blood
cells than to measure frataxin protein levels
in the nervous system.
Some individuals develop classic FRDA
symptoms but have a normal FRDA gene
test. It is not clear yet whether these FRDAlike
conditions are the result of a slightly
different alteration in the frataxin gene that
is not detected by the current gene test, or
whether the symptoms are caused by an
alteration in a different gene that plays a role
in the nervous system similar to that of the
frataxin gene. This is a question researchers
are still working to answer.
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| What happens after the diagnosis? |
It is helpful for patients and families with
FRDA to undergo genetic counseling since they
typically have questions about the chances
that other family members will acquire
the disease or be carriers of the abnormal
FXN gene. Questions about genetic testing
can also be answered by a genetic counselor.
An individual with FRDA should find a
physician who will follow him or her on a
regular basis to help address the neurologic
changes that are likely to occur over the
course of the disease, to anticipate and
screen for possible complications (such as
diabetes and heart disease), and to make
appropriate referrals to other specialists as
needed, including physical, occupational or
speech therapists.
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| What kind of support is available
for people with FRDA and their
families? |
Before and after the diagnosis, psychological
counseling or participation in support
groups is often beneficial for the affected
person and family members. Symptoms of FRDA are often similar to those of other
forms of ataxia and there are numerous
ataxia support groups throughout the United
States.
Support groups—People with Friedreich’s
ataxia are welcome to participate in any
of the support groups affiliated with the
National Ataxia Foundation. Support
groups throughout the United States can be
found on the National Ataxia Foundations' website:
www.ataxia.org.
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| What type of research is being done
on FRDA? |
The National Ataxia Foundation funds
promising world-wide research in all the
types of ataxias including Friedreich’s ataxia.
The National Ataxia Foundation’s Young
Investigator Award is awarded for research
only in Friedreich’s ataxia or Spinocerebellar
ataxia type 3. In 2007 NAF established the
Friedreich’s Ataxia Special Projects Award
for new and innovative studies for Friedreich’s
ataxia research relevant to cause, pathogenesis or
treatment of Friedreich’s ataxia.
In 2008, it was announced that a Phase III
clinical research trial is studying the effects
of idebenone on the nervous system and heart
of patients with Friedreich’s ataxia.
The National Ataxia Foundation is committed
to education about ataxia, service to individuals
affected with all forms of ataxia and promoting
and funding research to find the causes, better
treatments and a cure for ataxia. For questions
regarding on-going research, clinical trials or
other information about FRDA, contact the
National Ataxia Foundation.
3/08
National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
Phone: (763) 553-0020
Fax: (763) 553-0167
E-mail: naf@ataxia.org
Website: www.ataxia.org
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