Diagnosis - Ataxia

Visit your GP if you or your child have unexplained symptoms such as balance and co-ordination problems or difficulty walking, talking or swallowing.

Family and medical history

Your GP may ask whether you have any family history of ataxia. They will also want to know about the progression of your symptoms. They might carry out a simple assessment of your balance, walking and co-ordination.

Your GP may also ask how much alcohol you drink and whether you're taking any form of medication. This is because excessive drinking and certain medications can cause ataxia-like symptoms in some people.

You may be referred for a series of tests to rule out other possible causes of your symptoms, such as an infection. The tests will probably include blood and urine tests.

Further testing

If your symptoms suggest you may have acquired ataxia because of a serious underlying condition, it's likely you'll be admitted immediately to your nearest hospital.

Otherwise, you'll be referred to a neurologist (a specialist in brain and nervous system conditions) for further testing or, in the case of children, a paediatrician. Some of the tests you may have are described in the following sections.

Genetic testing

Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia.

Currently, tests can detect the mutations responsible for Friedreich's ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias.

Brain scans

Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. They can also be used to check for other problems that may affect your brain, such as a brain tumour.

The two most widely used brain imaging scans are:

• magnetic resonance imaging (MRI) scan – this uses a strong magnetic field and radio waves to produce detailed scans of the soft tissue of the brain
• computerised tomography (CT) scan – where a series of X-rays are taken and assembled by a computer into a detailed 3-dimensional image of your brain

Other tests

Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include:

• a lumbar puncture – where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities
• nerve conduction studies and electromyography (EMG) – tests used to assess the electrical activity in nerves and muscles
• videofluoroscopy – a continuous moving X-ray taken while you swallow different types of food and drink
• an electrocardiogram (ECG) – an assessment of the electrical activity of the heart
• an echocardiogram – an ultrasound scan of the heart