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Friedrich's ataxia Content Supplied by NHS Choices
Introduction

Ataxia is a term for a group of disorders that affect co-ordination, balance and speech.

Any part of the body can be affected, but people with ataxia often have difficulties with:

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

The exact symptoms and their severity vary depending on the type of ataxia a person has.

Types of ataxia

There are many different types of ataxia, which can be divided into three broad categories:

  • acquired ataxia - where symptoms develop as the result of trauma, a stroke, multiple sclerosis (MS), a brain tumour, nutritional deficiencies, or other problems that damage the brain or nervous system
  • hereditary ataxia - where symptoms develop slowly over many years and are caused by faulty genes that a person inherits from their parents; the most common type is Friedreich's ataxia
  • idiopathic late-onset cerebellar ataxia (ILOCA) - where the brain is progressively damaged over time for reasons that are unclear

Read more about the main types of ataxia.

What causes ataxia

Ataxia usually results from damage to a part of the brain called the cerebellum, but it can also be caused by damage to other parts of the nervous system.

This damage can be part of an underlying condition such as MS, or can be caused by a head injury, lack of oxygen to the brain, or long-term, excessive alcohol consumption.

Hereditary ataxia is caused by a faulty gene passed on by family members, who may or may not be affected.

Read more about the causes of ataxia.

How ataxia is treated

In most cases, there's no cure for ataxia and supportive treatment to control the symptoms is necessary.

This may include:

  • speech and language therapy to help with speech and swallowing problems
  • physiotherapy to help with movement problems
  • occupational therapy to help you cope with the day-to-day problems
  • medication to control muscle, bladder, heart and eye problems

In a few cases, it's possible to improve ataxia or stop it getting worse by treating the underlying cause.

Read more about treating ataxia.

Outlook

The outlook for ataxia can vary considerably and largely depends on the type of ataxia you have. Some types may remain relatively stable or even improve with time, but most will get progressively worse over many years.

Life expectancy is generally shorter than normal for people with hereditary ataxia, although some people can live well into their 50s, 60s or beyond. In more severe cases, the condition can be fatal in childhood or early adulthood.

For acquired ataxia, the outlook depends on the underlying cause. Some cases may improve or stay the same, while other cases may get gradually worse over time and reduce life expectancy.

Information about you

If you have ataxia, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

Causes of ataxia

Ataxia is usually caused by damage to a part of the brain known as the cerebellum, but it can also be caused by damage to the spinal cord or other nerves.

The spinal cord is a long bundle of nerves that runs down the spine and connects the brain to all other parts of the body.

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

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

Damage can occur as a result of injury or illness (acquired ataxia) or because the cerebellum or spinal cord degenerates because of an inherited faulty gene (hereditary ataxia).

Sometimes there's no clear reason why the cerebellum and spinal cord become damaged. This is the case for people with idiopathic late-onset cerebellar ataxia (ILOA).

Acquired ataxia

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

Hereditary ataxia

Hereditary ataxia is caused by a faulty gene. Genes are units of DNA that determine a particular characteristic, such as sex or eye colour. A baby receives two copies of every gene - one from their mother and one from their father.

Ataxia can be inherited in two possible ways:

  • autosomal recessive - Friedreich's ataxia and ataxia-telangiectasia are inherited in this way
  • autosomal dominant - episodic ataxia and some cases of spinocerebellar ataxia are inherited in this way

These are described in more detail below.

Autosomal recessive

When ataxia is autosomal recessive, it means the affected person has inherited the mutated gene from both their mother and their father.

If they only received one mutated gene from either parent, the other normal gene will cancel out the effects of the faulty gene and they will be a carrier of the condition. This means they don't have the condition themselves, but could pass it on to their children if their partner is also a carrier of the faulty gene.

It's estimated around 1 in every 85 people are carriers of the mutated gene that causes Friedreich's ataxia, and around 1 in every 100 people are carriers of the mutated gene that causes ataxia-telangiectasia.

If two carriers of the mutated gene were to have a baby, there would be a:

  • one in four chance the baby would receive a pair of normal genes
  • one in two chance the baby would receive one normal gene and one mutated gene (be a carrier)
  • one in four chance the baby would receive a pair of mutated genes and develop ataxia

If you have autosomal recessive ataxia and your partner is a carrier, there is a one in two chance your baby will receive one normal gene and one mutated gene and will be a carrier, and a one in two chance your baby will receive a pair of mutated genes and develop ataxia.

If you have autosomal recessive ataxia and your partner doesn't and they aren't a carrier, there's no risk of any of your children developing ataxia. This is because your mutated gene will be cancelled out by your partner's normal gene. Your children will be carriers, however.

Autosomal dominant

When ataxia is autosomal dominant, you can develop the condition if you receive a single faulty gene, either from your mother or father. This is because the mutation is strong enough to override the other normal gene.

If you have autosomal dominant ataxia, any children you have will have a one in two chance of developing ataxia.

Diagnosing 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 below.

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:

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
Treating ataxia

The treatment for ataxia can vary depending on exact what type of ataxia you have.

It's sometimes possible to treat the underlying cause of the condition so it improves or stops getting worse, but in most cases this isn't possible and you'll have treatment to relieve your symptoms.

Your treatment plan

You'll usually be cared for by a group of healthcare professionals called a multidisciplinary team (MDT), who will work with you to come up with a care plan. Your MDT will probably include a neurologist, physiotherapist and specialist nurse, among others.

Your care plan will play an important part in the management of your condition. Your physical, social and psychological needs will be assessed, and the plan will outline how these needs can best be met. The plan will also address any future needs you may have.

You'll normally have regular appointments with your MDT or GP to review your progress. In some cases, you may be seen in a specialist ataxia centre.

Treating the symptoms

Treatments for the various symptoms of ataxia are discussed below, although you may not experience all of the problems described.

Speech and language therapy

A speech and language therapist will be able to help with two of the most common symptoms of ataxia - slurred speech (dysarthria) and swallowing problems (dysphagia).

The therapist will be able to advise you 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 used when speaking
  • speaking more slowly to emphasise each word
  • using breathing techniques to improve your speech

If your speech gets worse, you may want to consider using speaking aids such as a laptop computer connected to a voice synthesiser. Your therapist will be able to advise you about the equipment available.

To treat dysphagia, your therapist will be able to teach you exercises to stimulate the nerves used to trigger your swallowing reflex and strengthen the muscles used when swallowing.

You may also be referred to a dietitian for dietary advice. For example, your diet may need to include food that's easier to swallow. Read more about treating dysphagia.

Occupational therapy

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

An occupational therapist may be able to teach you how to use a wheelchair and other mobility devices. They can also advise you about modifications you can make to your house, such as installing guide rails or a stair lift, to help make your life easier.

Physiotherapy

If you have ataxia, physiotherapy can help you maintain the use of your arms and legs, and prevent your muscles weakening or getting stuck in one position (contractures).

A physiotherapist will be able to teach you a number of physical exercises you can do every day to help strengthen and stretch your muscles. They may also be able to recommend walking aids to help you get around.

Muscle problems

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

If these aren't effective, an injection of botulinum toxin (Botox) may be given. This works by blocking the signals from your brain to the affected muscles. The effects of the injection will usually last for up to three months.

Bladder problems

Bladder problems, such as urinary urgency or, more rarely, urinary incontinence, sometimes affect people with ataxia.

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

Some people may also require a type of medication known as antimuscarinic. This will help relax the bladder, reducing the frequent urge to urinate. Occasional injections of botulinum toxin into the bladder may also help.

Others 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 later on. In such cases, it may be necessary to insert a small tube known as a urinary catheter into the bladder to help drain the urine.

Eye problems

Eye problems are common in some cases of ataxia. Oscillopsia is an eye problem caused by involuntary movement of the eyes from side to side or up and down. It can cause visual disruption, making tasks such as reading difficult. This can sometimes be treated using medication such as gabapentin to control the muscles that move the eyes.

Some people with ataxia experience double vision, where you see two images of a single object. It may be possible to treat this by attaching a wedge-shaped piece of glass or plastic called a prism to your glasses.

Erectile dysfunction

As a result of underlying nerve damage, some men with ataxia will experience difficulty getting or maintaining an erection (erectile dysfunction).

This can often be treated using a group of medications known as phosphodiesterase-5 (PDE-5) inhibitors, such as sildenafil (sold as Viagra). These help increase blood flow to the penis.

Read more about treating erectile dysfunction.

Fatigue

Many people with neurological conditions such as ataxia report feeling extremely tired and lethargic (lacking in energy). It's thought this is partly caused by disturbed sleep and the physical efforts of having to cope with the loss of co-ordination.

A physiotherapist may be able to help you increase your stamina levels, and an occupational therapist can advise you about how to adapt your daily activities to help you cope with fatigue better.

Read more about coping with fatigue.

Nerve 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 sometimes tingling, in certain parts of the body.

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

Read more about treating neuropathic pain.

Cardiomyopathy

Cardiomyopathy (damage to the heart muscle) is a common problem in some types of ataxia. This can be serious as it can place strain on the heart, affect the normal blood flow through the heart, and cause heartbeat irregularities (arrhythmias).

If you develop cardiomyopathy, you'll receive regular check-ups from a cardiologist (a heart specialist). You may need to take medication to treat any problems as they develop.

Depression

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

Signs that you may be depressed include feeling down or hopeless during the past month and no longer taking pleasure in the things you enjoy.

You should contact your GP or MDT for advice if you think you may be depressed. There are several treatments for depression, such as antidepressants and talking therapies such as cognitive behavioural therapy (CBT).

You may also find it useful to contact Ataxia UK, a leading charity for people affected by ataxia. Their helpline number is 0845 644 0606, open Monday to Thursday, 10.30am to 2.30pm.

Treating the underlying cause

In a few cases of ataxia, it may be possible to improve the condition or stop it getting worse by treating the underlying cause.

For example:

  • ataxia with vitamin E deficiency can often be controlled or improved with vitamin E supplements
  • episodic ataxia can often be controlled with a medication called acetazolamide and by avoiding triggers such as stress, alcohol and caffeine
  • acquired ataxia can sometimes be treated depending on the specific cause - for example, antibiotic or antiviral medication may help if it's caused by an infection

If acquired ataxia is caused by serious underlying brain damage, such as damage from a stroke or a severe head injury, it may not be possible to improve the condition. If this is the case, the treatments mentioned above can be used to control your symptoms.

Types of ataxia

Some types of ataxia affect children from an early age, while other types may not develop until much later in adulthood.

Depending on the type of ataxia, the symptoms may stay the same, get progressively worse, or slowly improve.

Some of the main types of ataxia are described below. Read about the causes of ataxia for information about why these different types of ataxia develop.

Friedreich's ataxia

Friedreich's ataxia is the most common type of hereditary ataxia (caused by genes you've inherited). It's thought to affect at least 1 in every 50,000 people.

Symptoms usually first develop before the age of 25, although it can develop in people much older than this.

Signs and symptoms of Friedreich's ataxia can include:

The symptoms of Friedreich's ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.

Ataxia-telangiectasia

Ataxia-telangiectasia (AT) is a rarer type of hereditary ataxia, affecting around 1 in every 100,000 children. Symptoms usually begin in early childhood, although they can sometimes develop later.

Signs and symptoms of AT can include:

  • difficulty walking - most children need to use a wheelchair by 10 years of age
  • increasingly slurred, slow and unclear speech (dysarthria)
  • difficulty swallowing (dysphagia)
  • small spider-like clusters of red blood vessels in the corner of their eyes and on their cheeks (telangiectasias)
  • very slow eye movements, which may mean the person has to move their head a lot to compensate for this
  • a weakened immune system - children with AT are more vulnerable to infections, particularly infections of the sinuses, lungs and airways, such as pneumonia
  • an increased risk of cancer, particularly acute lymphoblastic leukaemia or lymphoma - up to 40% of people with AT will develop cancer

The symptoms of AT tend to get worse quite quickly. People with the condition usually live until the age of 19 to 25, although some may live into their 50s.

Spinocerebellar ataxias

Spinocerebellar ataxias (SCAs) are a group of hereditary ataxias that often don't begin until adulthood, affecting people from the age of 25 up to 80, depending on the type of SCA. Occasionally, some types of SCA begin in childhood.

The symptoms vary depending on the type of SCA. They can include:

  • problems with balance and co-ordination - many people find walking difficult and need to use a wheelchair after a few years
  • increasingly slurred, slow and unclear speech (dysarthria)
  • difficulty swallowing (dysphagia)
  • muscle stiffness and cramps
  • loss of sensation in the hands and feet (peripheral neuropathy)
  • memory loss and difficulties with spoken language
  • slow eye movement, which means people have to move their head to compensate
  • reduced bladder control (urinary urgency or incontinence)

Ataxia UK has more detailed information about common subtypes of SCA.

Episodic ataxia

Episodic ataxia is a rare and unusual type of hereditary ataxia where someone experiences episodes of ataxia, but the rest of the time they have no or only mild symptoms.

During an episode, someone with episodic ataxia may experience:

Episodic ataxia usually first develops during the teenage years. The episodes can last from several minutes to hours and are usually the result of certain triggers, such as sudden movement, stress, exercise, caffeine or alcohol.

The symptoms of episodic ataxia may disappear as a person gets older, although sometimes the condition gets gradually worse over time. Medication can often help control attacks, and life expectancy is usually normal.

Other types of ataxia

There are also a number of other types of ataxia that tend to have similar symptoms to those mentioned above. These include:

  • acquired ataxia - this can affect people of any age and usually develops very quickly over the course of a few days, or sometimes hours; it may improve over time, stay the same or get slowly worse
  • idiopathic late-onset cerebellar ataxia (ILOCA) - this usually begins at around 50 years of age and gets slowly worse over time
  • ataxia with vitamin E deficiency - a similar condition to Friedreich's ataxia caused by problems with the body's ability to use vitamin E in the diet; it's often possible to control the symptoms with vitamin E supplements
 
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