Today is International Ataxia Awareness Day 2013!
Tell your friends, share our photos and help raise the profile of ataxia
worldwide!
So please help me out by sharing and spreading the word to
the masses.
What is Friedreich's ataxia?
What is Friedreich's ataxia?
Friedreich's ataxia (also called FA or FRDA) is a rare
inherited disease that causes nervous system damage and movement problems. It
usually begins in childhood and leads to impaired muscle coordination (ataxia)
that worsens over time. The disorder is named after Nicholaus Friedreich, a German
doctor who first described the condition in the 1860s.
In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate,
becoming thinner. The cerebellum, part of the brain that coordinates balance
and movement, also degenerates to a lesser extent. This damage results in
awkward, unsteady movements and impaired sensory functions. The disorder also
causes problems in the heart and spine, and some people with the condition
develop diabetes. The disorder does not affect thinking and reasoning abilities
(cognitive functions).
Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The
disorder is recessive, meaning it occurs only in someone who inherits two
defective copies of the gene, one from each parent. Although rare, Friedreich’s
ataxia is the most common form of hereditary ataxia, affecting about 1 in every
50,000 people in the United States. Both male and female children can inherit
the disorder.
What are the signs and symptoms?
Symptoms typically begin between the ages of 5 and 15 years,
although they sometimes appear in adulthood and on rare occasions as late as
age 75. The first symptom to appear is usually gait ataxia, or difficulty
walking. The ataxia gradually worsens and slowly spreads to the arms and the
trunk. There is often loss of sensation in the extremities, which may spread to
other parts of the body. Other features include loss of tendon reflexes,
especially in the knees and ankles. Most people with Friedreich's ataxia
develop scoliosis (a curving of the spine to one side), which often requires
surgical intervention for treatment.
Dysarthria (slowness and slurring of speech) develops and can get progressively
worse. Many individuals with later stages of Friedreich’s ataxia develop
hearing and vision loss.
Other symptoms that may occur include chest pain, shortness of breath, and
heart palpitations. These symptoms are the result of various forms of heart
disease that often accompany Friedreich's ataxia, such as hypertrophic
cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of
fiber-like material in the muscles of the heart), and cardiac failure. Heart
rhythm abnormalities such as tachycardia (fast heart rate) and heart block
(impaired conduction of cardiac impulses within the heart) are also common.
About 20 percent of people with Friedreich's ataxia develop carbohydrate
intolerance and 10 percent develop diabetes. Most individuals with Friedreich’s
ataxia tire very easily and find that they require more rest and take a longer
time to recover from common illnesses such as colds and flu.
The rate of progression varies from person to person. Generally, within 10 to
20 years after the appearance of the first symptoms, the person is confined to
a wheelchair, and in later stages of the disease individuals may become
completely incapacitated.
Friedreich's ataxia can shorten life expectancy, and heart disease is the most
common cause of death. However, some people with less severe features of
Friedreich's ataxia live into their sixties, seventies, or older.
How is Friedreich's ataxia diagnosed?
A diagnosis of Friedreich's ataxia requires a careful
clinical examination, which includes a medical history and a thorough physical
exam, in particular looking for balance difficulty, loss of proprioception
(joint sensation), absence of reflexes, and signs of neurological problems.
Genetic testing now provides a conclusive diagnosis. Other tests that may aid
in the diagnosis or management of the disorder include:
- electromyogram
(EMG), which measures the electrical activity of muscle cells,
- nerve
conduction studies, which measure the speed with which nerves transmit
impulses,
- electrocardiogram
(ECG), which gives a graphic presentation of the electrical activity or
beat pattern of the heart,
- echocardiogram,
which records the position and motion of the heart muscle,
- blood
tests to check for elevated glucose levels and vitamin E levels, and
- magnetic
resonance imaging (MRI) or computed tomography (CT) scans, tests which
provide brain and spinal cord images that are useful for ruling out other
neurological conditions.
How is Friedreich's ataxia inherited?
Friedreich's ataxia is an autosomal recessive disease,
meaning individuals only develop symptoms if they inherit two copies of the
defective FXN gene, one from their father and one from their mother. A person
who has only one abnormal copy of the gene is called a carrier. A carrier will
not develop the disease but could pass the gene mutation on to his or her
children. If both parents are carriers, their children will have a 1 in 4
chance of having the disease and a 1 in 2 chance of inheriting one abnormal
gene that they, in turn, could pass on to their children. About one in 90
Americans of European ancestry carries an abnormal FXN gene.
In 1996, an international research team identified the Friedreich’s ataxia gene
on chromosome 9. The FXN gene codes for production of a protein called
"frataxin." In the normal version of the gene, a sequence of DNA
(labeled “GAA”) is repeated between 7 and 22 times. In the defective FXN gene,
the repeat occurs over and over again—hundreds, even up to a thousand times.
This abnormal pattern, called a triplet repeat expansion, has been implicated
as the cause of several dominantly inherited diseases, but Friedreich's ataxia
is the only known recessive genetic disorder caused by the problem. Almost all
people with Friedreich's ataxia have two copies of this mutant form of FXN, but
it is not found in all cases of the disease. About two percent of affected individuals
have other defects in the FXN gene that are responsible for causing the
disease.
The triplet repeat expansion greatly disrupts the normal production of
frataxin. Frataxin is found in the energy-producing parts of the cell called
mitochondria. Research suggests that without a normal level of frataxin,
certain cells in the body (especially peripheral nerve, spinal cord, brain and
heart muscle cells) cannot effectively produce energy and have been
hypothesized to have a buildup of toxic byproducts leading to what is called
“oxidative stress.” It also may lead to increased levels of iron in the
mitochondria. When the excess iron reacts with oxygen, free radicals can be
produced. Although free radicals are essential molecules in the body's
metabolism, they can also destroy cells and harm the body. Research continues
on this subject (see section on “What research is being done?”).
Can Friedreich's ataxia be cured or treated?
As with many degenerative diseases of the nervous system,
there is currently no cure or effective treatment for Friedreich's ataxia.
However, many of the symptoms and accompanying complications can be treated to
help individuals maintain optimal functioning as long as possible. Doctors can
prescribe treatments for diabetes, if present; some of the heart problems can
be treated with medication as well. Orthopedic problems such as foot
deformities and scoliosis can be corrected with braces or surgery. Physical
therapy may prolong use of the arms and legs. Advances in understanding the
genetics of Friedreich's ataxia are leading to breakthroughs in treatment.
Research has moved forward to the point where clinical trials of proposed
treatments are presently occurring for Friedreich’s ataxia.
What services are useful to Friedreich's ataxia
patients and their families?
Genetic testing is essential for proper clinical diagnosis,
and can aid in prenatal diagnosis and determining a person’s carrier status.
Genetic counselors can help explain how Friedreich's ataxia is inherited.
Psychological counseling and support groups for people with genetic diseases
may also help affected individuals and their families cope with the disease.
A primary care physician can screen people for complications such as heart
disease, diabetes and scoliosis, and can refer individuals to specialists such
as cardiologists, physical therapists, and speech therapists to help deal with
some of the other associated problems.
Support and information for families is also available through a number of
private organizations. These groups can offer ways to network and communicate
with others affected by Friedreich’s ataxia. They can also provide access to
patient registries, clinical trials information, and other useful resources.
What research is being done?
Within the Federal government the National Institute of
Neurological Disorders and Stroke (NINDS), a component of the National
Institutes of Health (NIH), has primary responsibility for sponsoring research
on neurological disorders. As part of this mission, the NINDS conducts research
on Friedreich's ataxia and other forms of inherited ataxias at its facilities
at the NIH and supports additional studies at medical centers throughout the
United States. Several nonprofit organizations also provide substantial support
research (see the section on "Where can I get more information?").
Researchers are optimistic that they have begun to understand the causes of the
disease, and work has begun to develop effective treatments and prevention
strategies for Friedreich's ataxia. Scientists have been able to create various
models of the disease in yeast and mice which have facilitated understanding
the cause of the disease and are now being used for drug discovery and the
development of novel treatments.
Studies have revealed that frataxin is an important mitochondrial protein for
proper function of several organs. Yet in people with the disease, the amount
of frataxin in affected cells is severely reduced. It is believed that the loss
of frataxin makes the nervous system, heart, and pancreas particularly
susceptible to damage from free radicals (produced when the excess iron reacts
with oxygen). Once certain cells in these tissues are destroyed by free
radicals they cannot be replaced. Nerve and muscle cells also have metabolic
needs that may make them particularly vulnerable to this damage. Free radicals
have been implicated in other degenerative diseases such as Parkinson's and
Alzheimer's diseases.
Based upon this information, scientists and physicians have tried to reduce the
levels of free radicals, also called oxidants, using treatment with
“antioxidants.” Initial clinical studies in Europe suggested that antioxidants
like coenzyme Q10, vitamin E, and idebenone may offer individuals some limited
benefit. However, recent clinical trials in the United States and Europe have
not revealed effectiveness of idebenone in people with Friedreich’s ataxia, but
more powerful modified forms of this agent and other antioxidants are in trials
at this time. There is also a clinical trial to examine the efficacy of
selectively removing excess iron from the mitochondria.
Scientists also are exploring ways to increase frataxin levels through drug
treatments, genetic engineering and protein delivery systems. Several compounds
that are directed at increasing levels of frataxin may be brought to clinical
trials in the near future. To check for current trials, visit
http://www.clinicaltrials.gov.
Additional information is available from the groups listed in the following
section.
Armed with what they currently know about frataxin and Friedreich’s ataxia,
scientists are working to better define fraxatin’s role, clarify how defects in
iron metabolism may be involved in the disease process, and explore new
therapeutic approaches for therapy.
A lot to read there i know, had to get this out to the masses that don't
know. This is Friedreich’s ataxia this is what i live with every day.
I wanted to do more today but I went to the cinema to see
RUSH which is a really good film by the way and like a lot people I’ve found
myself hooked to GTAV.
I know my blog hasn’t been updated much but you can blame
Rockstar for that one haha no don’t their game is fantastic.
Thank you all if you read and PLEASE SHARE
Justin Scrimaglia
