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10 November 2009
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Genes

Ataxia (including Friedreich's ataxia)

Dr Trisha Macnair

Ataxia is the loss of coordinated bodily movements. Early problems include unsteadiness and clumsiness, but vision, hearing and speech can be affected too.


What causes it?

Ataxia can be caused by many things, and may be inherited or non-inherited.

Causes of non-inherited ataxia include multiple sclerosis, brain tumours and alcoholism.

Inherited ataxia results from a genetic abnormality. There are several types, including Friedreich's ataxia, spinocerebellar ataxia type 6 and ataxia telangiectasia.

Friedreich's ataxia is the most common type of early onset ataxia in Europe. It's caused by a fault in the gene that codes for a protein known as frataxin.

In some cases, ataxia is a result of abnormal development in the womb of an area of the brain known as the cerebellum, which is responsible for controlling muscle movement.

Sensitivity to gluten and a vitamin E deficiency can also cause ataxia.

Sometimes the cause of ataxia remains unknown, in which case it's called idiopathic ataxia.

What are the symptoms?

Symptoms vary depending on the type of ataxia but include early problems with unsteadiness and clumsiness, which in early onset types usually start between the ages of four and 16.

This is followed by a progressive loss of the ability to walk. Vision, hearing and speech may also be affected.

In late-onset types of ataxia - as the result of alcoholism, for example - symptoms usually begin after the age of 20.

Symptoms may remain mild or worsen as the ataxia progresses.

How is it diagnosed?

Diagnosing ataxia can take a while because many other conditions can cause similar symptoms.

When ataxia is suspected, blood tests, MRI scans and genetic tests may be performed to help confirm diagnosis.

Families affected by ataxia may be offered blood tests to see if individuals are carriers. Antenatal screening is also available for some types of ataxia.

What's the treatment?

There is no cure for ataxia.

Physiotherapy can help to maintain mobility, and occupational therapy can help with mobility aids. Where appropriate, speech therapy and counselling are used.

Medication is recommended to treat specific symptoms, such as muscle spasm. For some specific types of ataxia, such as vitamin E deficiency related ataxia, supplements are used.

Where there's an underlying cause of ataxia, such as alcoholism, this will be treated where possible.

This article was last medically reviewed by Dr Rob Hicks in January 2008


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