Ataxia - Diagnosis 

Diagnosing ataxia 

Visit your GP if you are concerned that you or your child may be experiencing the initial stages of ataxia.

One of the first things that your GP will want to know is whether you have any family history of ataxia.

They will also want to know about how your symptoms progressed. In most cases of hereditary ataxia the symptoms begin gradually and then slowly get worse over time, whereas in many cases of acquired ataxia the symptoms begin suddenly.

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

It is likely that you will be referred for a series of tests to rule out other possible causes of your symptoms, such as infection or autoimmune conditions such as lupus. These tests will probably include blood and urine tests.

Further testing

If your symptoms suggest that you may have acquired ataxia due to a serious underlying condition, such as meningitis, it is likely that you will be admitted immediately to your nearest hospital.

Otherwise, you will be referred to a neurologist (an expert in conditions that affect the brain and nervous system) or, in cases of children, a paediatrician for further testing.

Genetic testing

Genetic testing is where a sample of DNA is tested for any genetic mutation that is known to cause hereditary ataxia. At present, tests can detect the mutations that are responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias.

Lumbar puncture

Lumbar puncture involves taking a sample of cerebrospinal fluid (CSF) from the base of the spine and checking it for infection as well as other abnormalities that might provide clues about the cause of the ataxia.

CSF is the fluid that surrounds and protects the brain and spinal column.

Brain imaging scans

Brain imaging scans can be used to check for abnormalities in the structure of your brain that could be the result of certain types of hereditary ataxia. They can also check for other problems affecting your brain, such as a brain tumour.

The two most widely used brain imaging scans are:

Last reviewed: 13/10/2011

Next review due: 13/10/2013

MRI Scan

Magnetic resonance imaging (MRI) is a type of scan used to diagnose health conditions that affect organs, tissue and bone. MRI scanners use strong magnetic fields and radio waves to produce detailed images of the inside of the body