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Ataxia





Ataxia

Causes of ataxia

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

The spinal cord is a long bundle of nerves that runs down the spinal column 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 (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’s no clear reason why the cerebellum and spinal cord become damaged, as with idiopathic late onset cerebellar ataxia (ILOA).

Acquired ataxia

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

  • severe head injury – for example, the type of injury that can occur during a car crash or a fall
  • bacterial brain infection, such as meningitis or encephalitis (an infection of the brain itself)
  • viral infection – some viral infections, such as chickenpox or measles, can spread to the brain, although this is very rare 
  • 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 (TIA)
  • cerebral palsy – a series of conditions that can disrupt a child’s normal growth and development
  • multiple sclerosis – a long-term condition that damages the nerve fibres of the central nervous system
  • sustained long-term alcohol misuse
  • underactive thyroid gland
  • cancer 
  • certain toxic chemicals, such as mercury, lead, solvents and some types of pesticides – these can trigger ataxia if a person is exposed to enough of them
  • medications such as benzodiazepines can occasionally trigger ataxia as a side effect
  • autoimmune conditions, such as lupus, where the immune system attacks healthy tissue

Hereditary ataxia

Hereditary ataxia is caused by a genetic mutation (faulty gene). Genes are units of DNA that determine a particular characteristic, such as the sex of a baby 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 – such as the mutations responsible for Friedreich’s ataxia and ataxia-telangiectasia
  • autosomal dominant  – such as the mutations responsible for some cases of spinocerebellar ataxia

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, the other normal gene will cancel out the effects of the mutation and they will just be a carrier of the condition.

It’s estimated that around 1 in 75 people are carriers of the mutated gene that causes Friedreich’s ataxia, and around 1 in 100 people are carriers of the mutated gene that causes ataxia-telangiectasia.

The likelihood of two carriers meeting by chance is very low, which explains why these types of ataxia are so rare.

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
  • 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. However, your children will be carriers.

Autosomal dominant

When ataxia is autosomal dominant (as is the case for spinocerebellar ataxia), you can develop the condition if you receive a single mutated 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, regardless of sex.

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Published Date
2013-09-17 15:13:00Z
Last Review Date
2013-07-03 00:00:00Z
Next Review Date
2015-07-03 00:00:00Z
Classification
Ataxia






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.

In most cases of hereditary ataxia, the symptoms begin gradually and slowly get worse over time. In cases of acquired ataxia, the symptoms may begin suddenly.

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 or autoimmune conditions such as lupus. 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.

Genetic testing

Genetic testing involves testing a sample of DNA for any genetic mutation known to cause hereditary ataxia.

At present, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias.

Lumbar puncture

Lumbar puncture is a procedure where a sample of cerebrospinal fluid (CSF) is taken from the base of the spine. CSF is the clear fluid that surrounds and protects the brain and spinal column.

The sample can be checked for infection and any other abnormalities that might provide clues about what is causing the ataxia.

Brain imaging scans

Brain imaging scans can be used to check for structural 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:

Published Date
2013-09-17 14:57:52Z
Last Review Date
2013-07-03 00:00:00Z
Next Review Date
2015-07-03 00:00:00Z
Classification
Ataxia,Brain and nerve specialists,Brain tumours,Lumbar puncture,MRI scan






Ataxia

Introduction

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

It 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.

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. Some experts believe the true figure could be more than 100, each with its own specific cause.

There are three broad categories of ataxia:

  • acquired ataxia – where symptoms develop as a result of trauma, stroke, multiple sclerosis (MS), brain tumour, nutritional deficiencies, poisoning or other health conditions that damage 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 (ILOCA) – where the cerebellum is progressively damaged over time for reasons that are still unclear

What causes ataxia?

The brain and nerve damage associated with ataxia can be part of a neurological condition such as MS, or can be caused by a head injury, lack of oxygen to the brain or excess alcohol consumption.

Hereditary ataxia is caused by a faulty gene that is passed on by family members who may or may not be affected. The most common type is Friedreich’s ataxia.

Read more about the possible causes of ataxia.

Treating ataxia

Some types of ataxia can be treated, but in most cases there is no cure. In some cases of acquired ataxia, it may be possible to relieve symptoms by treating the underlying cause.

For hereditary ataxia and ILOCA, the symptoms get progressively worse over time. Treatment therefore involves helping a person cope with the day-to-day problems caused by their condition.

For example, a person may benefit from rehabilitation, including physiotherapy and occupational therapy, and they may need to use a wheelchair to help with mobility. Speech and language therapy may help with slurred speech and swallowing difficulties.

Read more about treating ataxia.

Outlook

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

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

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Published Date
2013-09-18 09:15:24Z
Last Review Date
2013-07-03 00:00:00Z
Next Review Date
2015-07-03 00:00:00Z
Classification
Ataxia,Blood,Brain,Brain tumours,Immune system,Stroke






Ataxia

Symptoms of ataxia

Contact your GP if you or your child start to experience unexplained problems with balance, co-ordination, walking, talking or swallowing.

The first noticeable symptoms of ataxia are usually loss of balance and co-ordination in your hands, arms and legs.

Walking becomes increasingly difficult and many people walk with their feet further apart to compensate for their loss of balance.

Actions that require a high degree of control (motor control), such as writing, also become more difficult.

Ataxia usually progresses to affect the voice, throat and tongue, which can cause a person to have:

  • increasingly slurred, slow and unclear speech (dysarthria)
  • difficulty swallowing (dysphagia)

Some people with hereditary ataxia experience increasing weakness as well as a lack of co-ordination in their legs, which means they will need a wheelchair at some point.

Other symptoms of hereditary ataxia can include:

  • involuntary eye movements, such as the eyes moving from side to side or up and down (oscillopsia)
  • shaking, usually in the hands when trying to use them

Some types of ataxia have other symptoms, which can include:

There are several signs and symptoms specific to certain types of ataxia, which are explained below.

Symptoms of Friedreich’s ataxia

Friedreich’s ataxia is the most common type of hereditary ataxia. Symptoms usually first develop during childhood between the ages of 8 and 15.

Signs and symptoms specific to Friedreich’s ataxia include:

  • deformity of the feet, such as high arches or abnormal curvature of the toes (hammer toes)
  • abnormal curvature of the spine to one side (scoliosis)
  • damage to the optic nerve, which may result in total or partial vision loss
  • hearing loss 
  • diabetes 
  • thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat

Symptoms of ataxia-telangiectasia

Ataxia-telangiectasia (AT) is a rare type of hereditary ataxia. About 1 in every 100,000 children are born with AT.

Symptoms usually begin in early childhood and rapidly worsen after the age of five. Most children with AT will need a wheelchair by the time they’re 10.

Many children with ataxia-telangiectasia will develop small, spider-like clusters of red blood vessels in the corner of their eyes and on their cheeks. These are called telangiectases. 

Children with ataxia-telangiectasia will also usually have a weakened immune system, making them more vulnerable to infections, particularly infections of the lungs and airways such as pneumonia.

An estimated one in five children with ataxia-telangiectasia will also develop cancer. This will usually be in the form of acute lymphoblastic leukaemia (cancer of the white blood cells) or lymphoma (cancer of the lymph nodes).

Symptoms of spinocerebellar ataxias

Spinocerebellar ataxias (SCAs) are a range of different types of hereditary ataxias that affect around 1 in every 100,000 people.

Unlike other types of hereditary ataxia, the symptoms of SCAs don’t usually begin until adulthood. Depending on the type of SCA, this could be between the ages of 25 and 70. Occasionally, some types of SCA begin in childhood.

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

  • muscle stiffness and cramps
  • reduced sensation in the hands and feet
  • cognitive problems, such as some memory loss or difficulties with spoken language
  • slow eye movement, which means people have to move their head to compensate
  • reduced sensation in the hands and feet
  • reduced bladder control (urinary urgency or incontinence
  • an uncomfortable feeling in the legs that makes you want to move your legs (restless legs syndrome)
  • episodes of vertigo 
  • episodes of migraine 
  • a progressive loss of vision that can often result in blindness

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

Symptoms of 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 symptoms.

The symptoms of episodic ataxia usually begin during the teenage years. The episodes of ataxia can last from several minutes to six hours and are usually the result of certain triggers, such as stress, exercise, excitement or alcohol.

The symptoms of episodic ataxia often disappear when a person reaches middle age and they don’t affect life span. 

Symptoms of ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency is a rare type of ataxia that begins in childhood. It occurs when the body cannot effectively transport vitamin E in the diet to where it’s needed in the body, which causes nerve damage.

Ataxia with vitamin E deficiency has similar symptoms to Friedreich’s ataxia. However, unlike Friedreich’s ataxia, it’s usually possible to control the symptoms by taking vitamin E supplements, depending on the severity of the diagnosis. 

Symptoms of acquired ataxia

The symptoms of acquired ataxia are usually the same as the general symptoms of hereditary ataxia, although they often develop very quickly over the course of a few days or, in some cases, hours.

Symptoms of idiopathic late onset cerebellar ataxia (ILOCA)

The symptoms of ILOCA usually begin at around 50 years of age and slowly get worse over time. Many people with ILOCA will need a walking aid or wheelchair 10 years after symptoms their start.

Published Date
2013-09-17 11:16:18Z
Last Review Date
2013-07-03 00:00:00Z
Next Review Date
2015-07-03 00:00:00Z
Classification
Ataxia,Migraine,Vitamins and minerals






Ataxia

Treating ataxia

If you have hereditary ataxia, you’ll have a care plan outlining your treatment needs.

If you have acquired ataxia, your treatment will depend on the underlying cause and how long your symptoms are likely to persist.

Hereditary ataxia

Multidisciplinary teams (MDTs) are used to manage cases of hereditary ataxia. MDTs are made up of healthcare professionals who bring different areas of expertise together into a team.

For example, your care team may include:

  • a neurologist – a specialist in conditions that affect the brain and nervous system
  • a cardiologist – a heart specialist
  • an ophthalmologist – an eye specialist
  • a urologist – a specialist in bladder conditions
  • a physiotherapist – a therapist who helps people improve their co-ordination and range of movement
  • a speech and language therapist
  • a psychologist – a mental health specialist
  • a social worker
  • an occupational therapist – a therapist who helps people improve the skills they need for carrying out 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

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

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.

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

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

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

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

Speech and language therapy (SLT)

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 synthesizer. 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 and you should also eat a healthy, balanced diet.

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 to develop new skills you can use to carry out daily activities.

An occupational therapist will 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.

Read more about occupational therapy.

Physiotherapy

If you have ataxia, physiotherapy can help prevent your muscles from weakening or getting stuck in one position (contracture).

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. Special arm or leg braces may also be used to help stretch your muscles.

Read more about physiotherapy.

Muscle problems

If you’re 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 may be given. It 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 rarely urinary incontinence, sometimes affect people with hereditary ataxia.

In some cases, 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 type of medication known as antimuscarinic. This will help relax the bladder, reducing the frequent urge to urinate.

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 catheter into the bladder to help drain the urine.

Read more about urinary catheterisation.

Eye problems

Eye problems are also common in cases of hereditary 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.

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

A more 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 called a prism to your glasses. 

Erectile dysfunction

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

Erectile dysfunction in cases of ataxia can often be treated using a group of medications known as phosphodiesterase-5 (PDE-5) inhibitors, such as Viagra (sildenafil). 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. Patients with multiple sclerosis may complain of severe fatigue.

A physiotherapist should be able to teach you exercises to 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.

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 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 complication of Friedreich’s ataxia, occurring in one in two cases.

Left untreated, cardiomyopathy 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).

Cardiomyopathy is difficult to treat and there is no known cure.  

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 
  • no longer taking pleasure in the things you enjoy

You should contact your GP for advice if you think you may be depressed. There are several relatively effective treatments for depression, such as antidepressant medication 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 and is open Monday to Thursday from 10.30am-2.30pm.

Acquired ataxia

The recommended treatment for acquired ataxia depends on the underlying cause and whether your 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 antivirals to treat the underlying infection should help resolve the symptoms.

If the ataxia is caused by serious underlying brain damage, such as damage as a result of a stroke or a severe head injury, it’s 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 (ILOCA)

Idiopathic late onset cerebellar ataxia (ILOCA), where the cerebellum is gradually damaged over time, is treated in the same way as hereditary ataxia.

However, the symptoms of ILOCA tend to be less severe and wide ranging, so you shouldn’t need many of the treatments discussed above.

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Published Date
2013-09-17 14:54:06Z
Last Review Date
2013-07-03 00:00:00Z
Next Review Date
2015-07-03 00:00:00Z
Classification
Ataxia,Ataxia UK,Brain and nerve specialists,Cerebral palsy,Communication,Head injuries,Health and care professionals,Healthy eating,Mental health specialists,Occupational therapists,Occupational therapy,Parkinson's disease,Physiotherapy,Social workers,Speech and language therapists,Speech therapy,Stroke,Urinary incontinence,Vitamin and mineral preparations