Hereditary ataxia
Initial testing
You should visit your GP if you are concerned that you, or your child, may be experiencing the initial stages of hereditary ataxia.
As hereditary ataxia is a condition that is inherited, one of the first things that your GP will want to know is whether you have any family history of ataxia.
They may also ask you about how much alcohol you drink, and whether you are taking any form of medication because drinking excessive amounts of alcohol and taking certain forms of medication, such as sedatives, can cause ataxia-like symptoms in some people.
It is likely that your GP will also refer you for a series of preliminary tests in order 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, both of which can be used to check for infection as well as assessing the health of your body’s organs.
Further assessment
If these initial tests prove inconclusive, it is likely that you (or your child) will be referred to see a neurologist (an expert in conditions that affect the brain and nervous system) at your local hospital.
Your neurologist will carry out a further series of more extensive tests which are outlined below.
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, most of the spinocerebellar ataxias, ataxia-telangiectasia, and episodic ataxia.
Lumbar puncture
Lumbar puncture involves taking a sample of cerebrospinal fluid (CSF) from the base of the spine and checking it for the presence of bacteria or viruses. CSF is the fluid that surrounds and protects and the brain and spinal column.
CT and MRI scans
Computer topography (CT) and magnetic resonance imaging (MRI) scans use medical imaging technology to produce detailed images of the structure of the brain and spine. The scans can often detect abnormalities resulting from certain types of hereditary ataxia, as well as ruling out other causes of your symptoms, such as a brain tumour.
Acute ataxia
As many of the causes of acute ataxia are serious and sometimes life-threatening, if you suddenly develop the symptoms of ataxia it is likely that you will be referred to hospital. This is so that your health can be carefully monitored while tests are carried out.
These tests may include:
- blood tests,
- urine tests
- CT and MRI scans, and
- lumbar puncture.
