Summary

  • Friedreich’s ataxia is a relatively rare inherited disease of the nervous system characterised by the gradual loss of coordination.
  • To the casual observer, a person with Friedreich’s ataxia may seem to be drunk.
  • The symptoms of Friedreich’s ataxia are caused by the gradual deterioration of nerve cells (neurones) in the spinal cord and brain.
  • There is no cure, but some of the symptoms can be managed with medications and physical therapy.

Friedreich’s ataxia is a relatively rare inherited disease of the nervous system characterised by the gradual loss of coordination.

A person with Freidrich's ataxia has increasing difficulty with coordination, leading to an unsteady gait and slurred speech. To the casual observer, a person with Friedreich’s ataxia may seem to be drunk.

Causes of Friedreich’s ataxia

Friedreich’s ataxia is caused by faults in a gene called FXN, which is located on chromosome 9. This defective gene interferes with the production of a particular protein called frataxin. Genetic counselling is recommended for parents who already have one child with the disease, as well as relatives of people with the condition.

Friedreich’s ataxia is autosomal recessive, meaning both parents have one faulty 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 faulty 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.

Signs and 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 on to the 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 4 years or as late as middle age. Most ultimately require the use of a wheelchair full-time, on average 15 years after symptom onset. Life span may also be reduced. However, it is impossible to predict how fast the disease will progress – some people will progress faster than others. 

Symptoms 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 (abnormal sideways curves).

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 problems hearing in a noisy environment.

Diagnosis of Friedreich’s ataxia

Friedreich’s ataxia is diagnosed using a number of tests including:

Treatment for Friedreich’s ataxia

There is no cure for Friedreich’s ataxia. Treatment aims to ease some of the symptoms and may include:
  • exercise, such as swimming
  • avoiding bed rest unless absolutely necessary (being immobile seems to exacerbate walking problems)
  • maintaining a healthy weight for your height
  • orthopaedic aids
  • 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.

Where to get help

Things to remember

  • Friedreich’s ataxia is a relatively rare inherited disease of the nervous system characterised by gradual loss of coordination.
  • To the casual observer, a person with Friedreich’s ataxia may seem to be drunk.
  • The symptoms of Friedreich ataxia are caused by the gradual deterioration of nerve cells (neurones) in the spinal cord and brain.
  • There is no cure, but some of the symptoms can be managed with medication and physical therapy.
References

More information

Genes and genetics

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This page has been produced in consultation with and approved by: Muscular Dystrophy Association

Last updated: March 2015

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