On this day, 12 years ago I was diagnosed 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.
(This is Nicholaus Friedreich)
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.
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.
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.
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.
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.
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?”).
As with many
degenerative diseases of te nervous system, there is currently no cure or
effective treatment for Friedreich's ataxia.
#
My name
is Justin Scrimaglia, September 11th 2002 I was diagnosed with Friedreich's Ataxia
at 15. This September 11th 12
years ago today, in those 12 years FA has taken my ability to walk, my speech
has gotten worse over the years too, I have under gone some major surgery as
well. I’m not going to sit here and sugar coat it, things are getting really though
these past few years. Just every day normal stuff, like washing, getting
dressed, going to the toilet stuff like that it’s getting harder.
Here
is my story http://jdscrim.blogspot.co.uk/2013/05/my-story.html
But
it’s not all doom and gloom
I’ve
been to loads of gigs and live events, a few festivals, and even jumped out of
an airplane tandem skydive.
I don’t let FA hold me back I just keep going,
like many diseases
it’s all about the having them good and bad days, sometimes we just got to roll with it keep
going, keep searching for that next good day.
September
25th
Is
Ataxia Awareness Day here in the UK, and on this day I am going to do my ATAXIA
pie face challenge
Hit someone in the face or have somone hit
you in the face with a cream pie...shaving cream is good, no sense in wasting a
good pie. Video it, and the hitter must explain a fact about ataxia. Challenge
3 people to do it, and also challenge Ellen DeGeneres. Like Ellen's page and
send a copy of video to her show and to
Fight Ataxia. The 3 people you challenge have 48 hours to complete it, or
donate $50 to The Fight Ataxia Project. Hopefully, we will raise some research
dollars, and get Ellen to accept the challenge on air. This has absolutely
nothing to do with any ataxia challenges you may see or hear about. READY, SET,
GO!!!!
Please make it clear that you are doing this for THE FIGHT ATAXIA PROJECT,,,Please do not say Ataxia Foundation.
DONATIONS AT http://fightataxia.org/Gendon.html
Please make it clear that you are doing this for THE FIGHT ATAXIA PROJECT,,,Please do not say Ataxia Foundation.
DONATIONS AT http://fightataxia.org/Gendon.html
So keep an eye out for that...
Also between now and the 25th
would you kindly please SHARE my blog or some of my stories, and Together Lets
Raise Awareness for FA - Friedreich's Ataxia
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