Ataxia is a condition that causes a loss of physical co-ordination. It is usually caused by damage to a part of the brain called the cerebellum, but it may also result from damage to other parts of the nervous system.

The symptoms of ataxia can affect every part of the body and cause difficulties with:

• walking
• balance
• speaking
• vision 
• swallowing (dysphagia)
• performing tasks that require a high degree of physical control, such as writing and eating

Read more about the symptoms of ataxia.

Types of ataxia

There are currently more than 50 recorded types of ataxia and some experts believe the true figure could be more than 100, each with its own specific cause.

In general terms there are three main broad categories of ataxia:

• acquired ataxia – where the symptoms develop suddenly as a result of trauma, injury or a health condition, such as a stroke, that causes damage to the cerebellum or nervous system
• hereditary ataxia – where the symptoms develop slowly over many years and are caused by underlying problems with the genes that a person inherits from their parents
• idiopathic late onset cerebellar ataxia (ILOA) – where the cerebellum is progressively damaged over time for reasons that are still unclear

Read more about the possible causes of ataxia.

Treating ataxia

There is currently no cure for ataxia. In some cases of acquired ataxia it is sometimes possible to relieve symptoms by treating the underlying cause. For example, in cases of vitamin deficiency, replacing the deficient vitamins may improve symptoms.

For hereditary ataxia and ILOA, symptoms get worse over time and treatment involves helping a person cope better with the day-to-day problems that they cause. This might be providing a wheelchair to help a person cope with walking difficulties, or speech and language therapy to help with slurred speech and swallowing difficulties.

Read more about treating ataxia.

Who is affected by ataxia?

Acquired ataxia is a relatively common complication of conditions such as stroke, encephalitis (infection of the brain) and multiple sclerosis (MS). It can develop in people of any age, including children.

Hereditary ataxia is much rarer. The most common type is Friedreich’s ataxia, which accounts for half of all cases of hereditary ataxia (an estimated 1 in every 50,000 people in England) a year. Some types of hereditary ataxia first develop in childhood, while others can develop in early adulthood or middle age.

ILOA is also rare, although slightly more common than hereditary ataxia. Cases of ILOA usually first develop in middle-aged adults.

Outlook

The outlook for ataxia will depend on the underlying cause, and life expectancy varies hugely. For example, some people with Friedreich’s ataxia die in their thirties, while people with less severe ataxia can have a normal life expectancy.

If you have ataxia that is caused by a condition such as multiple sclerosis, you may experience repeated episodes of ataxia, whereas the symptoms of hereditary ataxia and ILOA will become progressively worse.

Ataxia is caused by damage to a part of the brain known as the cerebellum and sometimes part of the spinal cord.

The spinal cord is a cable of nerves that runs from the brain to the rest of the body.

The cerebellum sits at the base of the brain and is responsible for controlling:

• walking and sitting balance
• limb co-ordination
• eye movements

Damage can occur as a result of injury or illness (as is the case with acquired ataxia) or because the cerebellum or spinal cord degenerates (as is the case with hereditary ataxia).

In a minority of cases there is no clear cause why the cerebellum and spinal cord become damaged as is the case with idiopathic late onset cerebellar ataxia (ILOA).

Acquired ataxia

Acquired ataxia can have a wide range of potential causes, such as:

• severe head injury, such as the type of injury that can occur during a car crash or a fall
• bacterial infection that affects the brain, such as meningitis or encephalitis (an infection of the brain itself)
• viral infection – some types of viral infection such as chickenpox or measles can spread to the brain, although this is very uncommon 
• conditions that disrupt the supply of blood to the brain, such as a stroke, haemorrhage (bleeding in or around the brain) or a transient ischaemic attack (a so-called mini-stroke)
• cerebral palsy – a series of conditions that can disrupt a child’s normal growth and development
• multiple sclerosis – a long-term condition that causes damage to the nerve fibres of the central nervous system
• prolonged long-term alcohol misuse
• underactive thyroid gland
• cancer 
• certain toxic chemicals, such as mercury, lead, solvents and some types of pesticides, can trigger ataxia if a person is exposed to enough of them
• certain medications, such as benzodiazepines (a medication used to relax people who are anxious or have problems sleeping), can occasionally trigger ataxia as a side effect
• health conditions where the immune system attacks healthy tissue (autoimmune conditions), such as lupus
• in children, epilepsy – a condition that can cause a person to experience repeated seizures (fits)

Hereditary ataxia

Hereditary ataxia is caused by genetic mutations. A genetic mutation is when the instructions carried in all living cells become scrambled in some way meaning that one or more of the functions of the body does not work as it should do. Read more about genetics.

The genetics of ataxia

To have a better understanding of the genetics of hereditary ataxia, it is useful to learn about chromosomes.

Chromosomes are blocks of deoxyribonucleic acid (DNA). They contain a detailed set of instructions that control a wide range of factors – from how the body’s cells develop, to what colour eyes a baby will have and what sex a baby will be.

You receive two sets of chromosomes, one from your mother and one from your father. As all the genes in your body are created from these chromosomes, you will receive two sets of every gene, one gene from your mother and one gene from your father. In each pair of genes you receive, one gene is recessive and one is dominant.

There are two ways that a genetic mutation can be passed down through families:

• autosomal recessive: such as the mutations responsible for Friedreich’s ataxia and ataxia-telangiectasia
• autosomal dominant: such as the mutation responsible for spinocerebellar ataxia

These are described in more detail below.

Autosomal recessive

If the mutated gene is autosomal recessive, it means that you will only develop ataxia if you receive a pair of mutated genes (one from your mother and one from your father).

If you only receive one of the mutated genes, the other normal gene will cancel out the effects of the mutation. However, you will be a carrier of one of the mutated genes.

It is estimated that around 1 person in every 75 is a carrier of the mutated gene that causes Friedreich’s ataxia and around 1 person in 100 carries the mutated gene that causes ataxia-telangiectasia.

The chances of two carriers meeting, having a relationship and then having a baby is low, which explains why these types of ataxia are so rare.

If two carriers have a baby:

• There is a 1 in 4 chance that the baby will receive a pair of normal genes.
• There is a 1 in 2 chance that the baby will receive one normal gene and one mutated gene. In this case, they will not develop ataxia but they will be a carrier.
• There is a 1 in 4 chance that the baby will receive a pair of mutated genes and will develop ataxia.

If you have autosomal recessive ataxia and your partner is a carrier:

• There is a 1 in 2 chance that your baby will receive one normal gene and one mutated gene and become a carrier.
• There is a 1 in 2 chance that your baby will receive a pair of mutated genes and develop ataxia.

If you have autosomal recessive ataxia and your partner does not and is not a carrier, there is no risk that any children that you have will develop ataxia because your mutated gene will be cancelled out by your partner’s normal gene.

Autosomal dominant

If the mutated gene is autosomal dominant, as is the case with the various types of spinocerebellar ataxias, you can develop ataxia if you receive a single mutated gene, either from your mother or your father. This is because the mutation is strong enough to override the other, normal gene.

If you have autosomal dominant ataxia, any children that you have will have a 1 in 2 chance of developing 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:

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

Hereditary ataxia

Your care team

Hereditary ataxia is treated by a combination of different healthcare professionals. These individuals, who have their own areas of expertise, work together as a team. This type of team is known as a multi-disciplinary team (MDT).

For example, your care team may include:

• a neurologist: a specialist in treating conditions that affect the brain and nervous system
• a cardiologist: a specialist in treating heart conditions
• an ophthalmologist: an eye care specialist
• a urologist: a specialist in treating conditions that affect the bladder, such as urinary incontinence
• a physiotherapist: a therapist who helps people by improving their range of movement and co-ordination
• a speech and language therapist
• a psychologist: a mental health specialist
• a social worker
• an occupational therapist: someone who helps people to improve the skills and abilities that they need for daily activities, such as washing and dressing
• a specialist neurology nurse: who will usually be your first point of contact with the rest of the team

Your care plan

As hereditary ataxia is such a rare condition, if you are diagnosed with it you may be referred to a specialist ataxia centre.

A care plan is an important part of the management of a long-term condition, such as ataxia. The purpose of your care plan is to assess what physical, social and psychological needs you have. It will address how these needs can best be met and assess what needs may arise in the future

There are some types of hereditary ataxia where it is possible to control symptoms. These include:

• ataxia with vitamin E deficiency – which can be treated using vitamin E supplements
• episodic ataxia type 2 – which can be treated using a medication called acetazolamide

In most cases of ataxia it is not possible to eliminate the symptoms. Treatment provides support to help you cope better with symptoms. This is known as symptomatic treatment.

Treatments for the various symptoms are discussed below, although it is important to stress that you may not experience all of the symptoms described.

Speech and language therapy (SLT)

A speech and language therapist can help you with two of the most common symptoms of ataxia:

• slurred speech (dysarthria)
• swallowing problems (dysphagia)

The therapist can provide you with advice about how to make your voice sound clearer.

For example, they may suggest:

• changing your posture to improve the quality of your voice
• carrying out exercises to strengthen the muscles that are used when speaking
• learning to speak more slowly in order to emphasise each word better 
• using breathing techniques to improve your speech

If your slurred speech worsens, you may want to consider using speaking aids, such as a laptop computer that is connected to a voice synthesizer. Your therapist can advise you about the equipment available.

To treat dysphagia, your therapist can teach you exercises that can stimulate the nerves used to trigger your swallowing reflex and strengthen the muscles that you use during swallowing.

You may be referred to a nutritionist who will advise you about making changes to your diet to include food that is easier to swallow while also ensuring that you eat a healthy, balanced diet.

Read more about the treatment of dysphagia.

Occupational therapy

The aim of occupational therapy is to teach you how to adapt to your gradual loss of mobility, and to develop new skills you can use to carry out daily activities.

An occupational therapist can teach you how to use a wheelchair and walking aids, such as crutches. They can also advise you about modifications you can make to your house, such as guiderails or a stair lift, to make your life easier.

Read more about occupational therapy.

Physiotherapy

In people with ataxia, physiotherapy can prevent your muscles from weakening or getting stuck in one position (contracture).

Your physiotherapist can teach you a number of physical exercises that you can do every day to strengthen and stretch your muscles. Special arm or leg braces may also be used to help stretch your muscles.

Read more about physiotherapy.

Muscle problems

If you are experiencing muscle spasms, cramps and stiffness, muscle relaxant medication such as baclofen or tizanidine can be used to control these symptoms.

If muscle relaxants are not effective, an injection of botulinum toxin (BTA) may be given. BTA works by blocking the signals from the brain to the affected muscles.

The effects of the injection normally last for up to three months.

Bladder problems

Bladder problems, such as urinary incontinence, can be common in people with hereditary ataxia.

In some cases these bladder problems can be controlled using a number of self-care techniques, such as limiting fluid intake during the day and avoiding drinks known to stimulate urine production, such as caffeine and alcohol.

Some people may also require a class of medication known as antimuscarinic. This helps to relax the bladder, reducing the frequent urge to urinate. Read more about the treatment of urinary incontinence.

Some people may find it difficult to empty their bladder completely when they go to the toilet. This can lead to small amounts of urine leaking out at a later time.

In these cases it may be necessary to insert a small tube known as a catheter into the bladder to help drain urine out.

Read more about urinary catheterisation.

Eye problems

Eye problems are also common in cases of hereditary ataxia.

Oscillopsia is a visual disturbance caused by the eyes moving involuntarily from side to side or swinging up and down. This can sometimes cause disruption to vision and make tasks such as reading difficult.

Oscillopsia can sometimes be treated using medication, such as gabapentin, to control the muscles that move the eyes.

A less common eye problem that can occur is double vision, where you see two images of a single object.

It may be possible to treat double vision by attaching a wedge-shaped piece of glass or plastic, known as a prism, to your glasses. 

Erectile dysfunction

Due to underlying nerve damage some men with hereditary ataxia will experience difficulties obtaining or maintaining an erection. This is known as erectile dysfunction.

Erectile dysfunction in cases of ataxia can often be treated using a group of medications known as phosphodiesterase-5 (PDE-5) inhibitors. These help increase the flow of blood to the penis and include Viagra (sildenafil).

Read more about the treatment of erectile dysfunction.

Fatigue

Many people with neurological conditions such as ataxia report feeling unusually tired and lacking in energy.

It is thought that part of the explanation for this fatigue is disturbed sleep during the night and the physical efforts of having to cope with the loss of co-ordination. Patients with multiple sclerosis may complain of severe fatigue.

A physiotherapist should be able to teach you exercises designed to increase your stamina levels, and an occupational therapist should be able to provide advice on how to adapt your daily activities to help cope better with fatigue.

Read more about coping with fatigue.

Neuropathic pain

Damage to the nerve endings can result in nerve pain. The medical term for nerve pain is neuropathic pain, which is often experienced as a burning, aching or shooting pain, or alternatively as tingling in certain parts of the body.

Traditional painkillers, such as paracetamol or ibuprofen, are not usually effective in treating neuropathic pain, so you may be prescribed a number of medications such as amitriptyline, gabapentin or pregabalin.

Read more about the treatment of neuropathic pain.

Cardiomyopathy

Cardiomyopathy (damage to the heart muscle) is a common complication of Friedreich’s ataxia, occurring in one out of every two cases.

Left untreated, cardiomyopathy can be serious as it can place strain on the heart, affect the normal flow of blood through the heart and cause irregularities with how the heart beats (arrhythmias).

If you do develop cardiomyopathy, you will receive regular check-ups from a cardiologist (heart specialist).

Cardiomyopathy is difficult to treat and there is no known cure for this complication.  

Depression

Living with a long-term condition such as ataxia can be stressful and cause often intense feelings of anxiety. In some cases this can trigger the onset of depression.

Signs that you may be depressed include:

• during the past month you have been feeling down or hopeless
• you no longer take pleasure in things you enjoy

If you think you may be depressed you should contact your GP for advice. There are several relatively effective treatments for depression, such as antidepressant medication and talking therapies such as cognitive behavioural therapy.

You may also find it useful to contact Ataxia UK, which is a leading charity for people affected by ataxia.

They have a helpline, 0845 644 0606, which is open from 10.30am to 3.30pm on Monday to Thursday, and 10.30am to 1pm on Fridays. Alternatively, you can email them on helpline@ataxia.org.uk.  

Acquired ataxia

The recommended treatment for acquired ataxia will depend on the underlying cause and whether your ataxia symptoms are likely to persist on a long-term basis.

For example, if ataxia is caused by a complication of an infection, using antibiotics or anti-virals to treat the underlying infection should help resolve the symptoms.

If the ataxia is due to serious underlying brain damage, such as damage arising from a stroke or a severe head injury, it is likely that the symptoms will persist. If this is the case, your ataxia will be treated in the same way as hereditary ataxia.

Idiopathic late onset cerebellar ataxia (ILOA)

Idiopathic late onset cerebellar ataxia (ILOA) is treated in the same way as hereditary ataxia, although, as the symptoms tend to be less severe and wide ranging, you should not require many of the treatments that are discussed above.