FA in SA
Friedreich
Ataxia
in
South
Australia
Headline
News
What is
Friedreich Ataxia?
How do you
get FA?
What are
the Symptoms of
FA?
When do symptoms occur?
What
tests
are
used
to
confirm the diagnosis of FA?
How is FA managed?
What can I do?
The following information is
courtesy of the Friedreich Ataxia Clinic, Monash Medical Centre.
What is Friedreich Ataxia?
- Friedreich Ataxia ( FA) is a genetic, neurological
and degenerative condition.
- FA gradually affects, overtime, a person's gross
motor skills ( co-ordination), mobility, heart and speech function.
- FA is often life shortening due to complications
with the Heart.
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How do you get FA?
- In 1996 researchers identified the cause of
FA :- an altered gene, which
disrupts the normal production of the protein Frataxin.
- Frataxin is needed for certain cells in the
body ( ie-
parts of the brain, spinal chord, heart and muscle cells). A
reduction in Frataxin production results in cell damage and death,
leading to a loss of function in these areas.
- FA occurs when this altered gene is inhereited from
both parents. About 1:30,000 people in Australia have FA
- Up to 1 in 90 people in Australia are carriers of
the altered gene. When both parents are carriers, there is a 1in
4 chance of having a child with FA. The FA gene is recessive.
- Genetic testing is available for couples, to define
the risk of having a child with FA.
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What are the Symptoms of FA?
- Loss of co-ordination and weakness ( Ataxia)
in the arms and legs which affects walking and hand function ( 100%)
- Slurring of Speech and difficulty swallowing ( 100%)
- Changes in sensations in the feet and hands ( 100%)
- Curvature of the spine ( scoliosis) (80%)
- Changes in the heart muscle (>70%)
- Hearing and Vision Impairment (10%)
Approximately 10 years
after the onset of FA, most people require the full time use of a
wheelchair and need assistance with physical tasks.
Generally the problem to think and problem solve remains unaffected.
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When do symptoms occur?
- Symptoms are progressive and gradual. On average,
symptoms start around 12 years of age, However they can occur much
earlier or later than this.
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What tests are used to
confirm the diagnosis of FA?
- Confirmation of FA is done via a blood test. (
results can take up to 8- 10 weeks)
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How is FA managed?
Currently there is no cure for FA, however there is alot that can be
done to manage the symptoms and avoid problems. This includes
- Managing heart problems with medication
- Maximising mobility through exercise to develop
strength and flexibility along with correct use of mobility aids
- Preventing changes in muscle condition and posture
by regular exercise and stretching/strengthening, use of splints or
medication and advice on correct seating and wheelchair perscription.
- Promoting independence through understanding how to
approach common tasks and through the use of appropriate aids.
- Learning techniques to assist communication and
manage swallowing difficulties
- Encouraging participation in the community through
accessing support with study, travel, employment and recreation.
- Using counselling to assist and reinforce coping
mechanisms during times of change and adjustment
- Understanding the genetic issues relating to FA
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What can I do to
make life easier for people with FA?
- Ensure suitable access is available to home, work or
study environments.
- Allow people with FA extra time to complete things
that involve physical tasks
- Remember, that FA does not affect intelligence.
- Listen carefully to people with FA and allow them
time to respond
- Be flexible so that people with FA can be included
in most activities. Consider their access needs and energy levels.
- Remember that people with FA continue to think about
the same range of topics and feel the same range of emotions as others.
- Get involved in an FA event and help raise awareness
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