Friedreich's ataxia
Friedreich’s ataxia
About Friedreich’s ataxia
Friedreich’s ataxia (also known as ‘Friedreich’) is a relatively rare inherited condition of the nervous system characterised by the gradual loss of coordination.
A person with Friedreich’s ataxia has increasing difficulty with coordination, leading to an unsteady gait and slurred speech.
What causes Friedreich’s ataxia?
Friedreich’s ataxia is caused by changes in a gene called
FXN
, which is located on chromosome 9. This altered
gene
interferes with the production of a protein called frataxin.
Friedreich’s ataxia is inherited in an autosomal recessive pattern, meaning both parents have one altered
gene
, but don’t exhibit any symptoms themselves, since they have a second healthy copy. The children of parents who are both healthy carriers of a single altered
FXN
gene each have a 25 per cent chance of being affected by Friedreich’s ataxia and a 50 per cent chance of being carriers like their parents.
Genetic
counselling
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is recommended for parents who already have one child with Friedreich’s ataxia, as well as relatives of people with the condition.
Symptoms of Friedreich’s ataxia
The symptoms of Friedreich’s ataxia are caused by the gradual deterioration of the neurones in the cerebellum and spinal cord, which prevents electrical messages from passing smoothly between neurones and muscles, leading to poor coordination and movement.
Friedreich’s ataxia progresses slowly. At first, the person’s lack of coordination may be mistaken for clumsiness.
The onset of symptoms usually occurs on average between 10 and 15 years of age, but can be as early as four years or as late as middle age. Most people with Friedreich’s ataxia ultimately require the use of a wheelchair full-time, on average 15 years after symptom onset. Their life span may also be reduced. However, at this stage, medical technology cannot predict how fast the disease will progress – some people will progress faster than others.
Symptoms of Friedreich’s ataxia include:
lack of physical coordination
loss of balance
unsteadiness on the feet
the need to maintain balance by positioning the feet widely apart
unsteadiness is worsened if the person can’t see (such as in the dark)
muscle
weakness as the condition gets worse
walking abnormalities
lack of tendon reflexes in the legs
jerky movements and lack of coordination ultimately involving the arms, legs and body
speech difficulties, such as slurring
swallowing problems and an associated risk of choking
increased susceptibility to respiratory infections
numbness
other abnormal changes in skin sensation, such as reduced ability to feel temperature, pressure or pain
spine curvatures, such as
scoliosis
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(where the spine curves sideways).
Complications of Friedreich’s ataxia
Two out of three people with Friedreich’s ataxia will have associated heart problems called cardiomyopathy. The heart muscle fibres degenerate and, ultimately, impair the heart’s functioning. This can cause a range of problems, including palpitations and congestive heart failure.
Some of the other complications include:
diabetes
vision problems
, which rarely include blindness
hearing difficulties, including
deafness
. Many people with Friedreich’s ataxia have normal hearing in a quiet environment, but significant issues hearing in a noisy environment.
Diagnosis of Friedreich’s ataxia
Friedreich’s ataxia is diagnosed using a number of tests including:
medical history
physical examination
electrical nerve conduction tests
electrocardiogram
(ECG)
External Link
echocardiogram (
ultrasound
of the heart)
x-rays
External Link
magnetic resonance imaging
(MRI)
External Link
genetic testing – the method for definitive diagnosis of Friedreich’s ataxia.
Treatment for Friedreich’s ataxia
There is currently no cure for Friedreich’s ataxia. Treatment aims to ease some of the symptoms and may include:
exercise
, such as aquatic physical therapy to prolong the ability to walk and to help with balance, flexibility and accuracy of limb movements
regular heart monitoring
regular assessment of ataxia and muscle weakness to enable the appropriate referral to the required specialists
speech and language pathology to assist with speech difficulties
maintaining a healthy weight for your height
orthopaedic aids
protective foot care
adaptations to the home, such as wheelchair access ramps
physiotherapy
medication to reduce muscle tremors and spasms
medication to treat heart palpitations
medication, such as
insulin
, to treat diabetes
surgery to correct abnormal spine curvatures.
Research into the function of the deficient protein, frataxin, may offer potential for future beneficial treatments.
Genetic counselling and Friedreich’s ataxia
If your child or another family member has been diagnosed with Friedreich’s ataxia, or if it runs in your family, it may be helpful to speak to a genetic counsellor.
Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Friedreich’s ataxia and what causes it, how it is inherited, and what a diagnosis means for your child’s health and development, and for your family. Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.
If Friedreich’s ataxia runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family – to find out your risk of passing the condition on to your child, or to arrange for prenatal tests.
The
Genetic Support Network of Victoria
(GSNV)
External Link
is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by Friedreich’s ataxia.
Where to get help
Your
GP (doctor)
Muscular Dystrophy
Australia
External Link
Tel.
(03) 9320 9555
fara (Friedreich Ataxia Research
Association)
External Link
Tel.
0411 129 867
Genetic Support Network of Victoria
(GSNV)
External Link
Tel.
(03) 8341 6315
Victorian Clinical Genetics Services
(VCGS)
External Link
Tel.
1300 118 247