Ataxia

Ataxia is a term for a group of neurological conditions that affect balance, coordination and speech.

Any part of the body can be affected by ataxia and it can affect people in different ways.

Symptoms

People with ataxia often find they're falling over more or can't walk in a straight line.

Other symptoms can include:

  • becoming more clumsy
  • slurred speech
  • problems with swallowing which can cause choking or coughing
  • tremors or shaking
  • fatigue or tiredness
  • problems with sight like blurred or jumpy vision caused by difficulty controlling eye movements

Some people experience mild symptoms like slight balance problems. Other people have more severe symptoms and need help to carry out everyday tasks.

Types of Ataxia

Some types of ataxia are inherited. This means they're caused by genes passed on by a parent (or parents) to their child. Other types of ataxia that are not inherited can be caused by different factors like brain damage, diet, or side effects from taking drugs.

Hereditary ataxia

Hereditary ataxia is caused by genes you've inherited from your parents. There are different types of hereditary ataxia.

Friedreichs' ataxia

Friedreichs' ataxia is the most common form of hereditary ataxia. Symptoms will normally start before the age of 25 but they can develop later.

Spinocerebellar Ataxia (SCA's)

Spinocerebellar ataxia (SCA's) are caused by mutations in different genes. More than 100 types of SCA's have been found through research since 1965.

Ataxia with oculomotor apraxia (AOA)

Ataxia with oculomotor apraxia (AOA) comes in 2 forms AOA1 or AOA2.

Dentatorubral pallidoluysian atrophy (DRPLA)

Dentatorubral pallidoluysian atrophy (DRPLA) is a type of inherited cerebellar ataxia which gradually gets worse over time. Symptoms normally begin later in life.

Episodic

Episodic ataxia is a rare type of hereditary ataxia where a person has episodes or attacks of ataxia symptoms. The episodes can be triggered (caused) by environmental factors like stress, caffeine, alcohol, medication, physical activity or illness.

There are two ways of ataxia being inherited.

Autosomal recessive

If you have ataxia that's autosomal recessive, it means you've inherited the mutated gene from both of your parents.

If you only receive one mutated gene from one parent, you'll be a carrier for ataxia. This means you won't have the condition yourself but could pass it on to your children, if the other parent is also a carrier of the faulty gene.

If 2 people who carry the mutated gene were to have a baby there'd be a:

  • 1 in 4 chance the baby would receive a pair of normal genes
  • 1 in 2 chance the baby would receive one normal gene and one mutated gene and therefore be a carrier
  • 1 in 4 chance the baby would receive a pair of mutated genes and would have ataxia

If you have autosomal recessive ataxia and your partner doesn't and isn't a carrier, any children you have won't have this type of ataxia. Your children will be carriers of the mutated gene.

If you have autosomal recessive ataxia and your partner is a carrier there's

  • a 1 in 2 chance your children will receive one normal gene and one mutated gene and won't have ataxia but will be a carrier
  • a 1 in 2 chance your children will receive a pair of mutated genes and will develop ataxia
Autosomal dominant

If you have autosomal dominant ataxia, you can develop the condition even if you only receive one faulty gene from either parent. This is because the mutated gene is stronger and overrides the normal gene.

Any children of someone with autosomal dominant ataxia will have a 1 in 2 chance of developing ataxia.

Acquired ataxia

Acquired ataxia can develop during someone's life caused by something other than a gene mutation.

This type of ataxia can be caused by:

It's possible for someone with acquired ataxia to reduce their symptoms (and sometimes stop them altogether) by making changes to their diet or lifestyle.

You should speak to your doctor before making changes to your diet.

Idiopathic

Idiopathic ataxia is a type of ataxia where the cause is not known. Around 50% of people with ataxia have idiopathic ataxia.

Gluten

People with gluten ataxia are sensitive to a protein in gluten which is found in wheat products. It's a type of sporadic idiopathic ataxia found in people with no family history of ataxia and no known cause.

Causes

In most cases, ataxia is caused by damage to the cerebellum (a part of the brain). It can also be caused by damage to the spinal cord or nerves.

The spinal cord is a long collection of nerves that runs down the spine connecting the brain to other parts of the body.

The cerebellum is at the base of the brain and controls:

  • eye movements
  • speech
  • co-ordination of arms and legs
  • balance

Diagnosing ataxia

It can be difficult to get a diagnosis of the specific type of ataxia because there are many conditions that can appear very similar.

A neurologist (doctor that specialises in conditions affecting the brain) might need to do a number of tests to give an accurate diagnosis and this can take some time.

If your symptoms suggest you've acquired ataxia because of a serious underlying condition, you'll likely be admitted to hospital. If not, you'll be referred to a neurologist for more tests.

Patient and family history

A doctor might ask about your symptoms and how they've progressed. They might assess your balance, walking and co-ordination.

The doctor might ask how much alcohol you drink and what medication you take. This is because drinking too much and some medications can cause symptoms similar to ataxia in some people.

You might be referred for blood or urine tests to rule out other causes like infection.

The doctor will also ask if you have a family history of ataxia. Even if no one in your family is affected, this does not mean ataxia cannot be inherited.

Brain scans

A brain scan might be used to check for physical changes in the brain that could be caused by certain types of hereditary ataxia.

You might have a computerised tomography (CT scan) or a magnetic resonance imaging (MRI) scan.

Other tests

Other test you might have to help your doctor diagnose ataxia might include:

  • a lumbar puncture to take a sample of cerebrospinal fluid from the base of the spine to check for infection
  • electromyography (EMG) or nerve conduction studies to test the electrical activity in nerves and muscles
  • videoflouroscopy (a moving X-ray) while you swallow different types of food and drink
  • an electrocardiogram (ECG) to assess the electrical activity of the heart
  • an echocardiogram which is an ultrasound scan of the heart

Treatment for ataxia

There is no cure for ataxia. If the underlying cause of your ataxia is known, this can sometimes be treated which can help improve symptoms or stop your ataxia getting worse. There are treatments available to help with the symptoms.

Treating the underlying cause

It might be possible to improve your ataxia or stop it getting worse if the underlying cause is known and is treatable.

The underlying cause might be treatable if you have:

  • ataxia with vitamin E deficiency as this can often be improved with vitamin E supplements
  • episodic ataxia as it can often be improved by taking a medication called acetazolamide and by avoiding triggers like caffeine, stress and alcohol
  • acquired ataxia as it can sometimes be treated if the specific cause is something like an infection where antibiotics or antiviral treatment might help

If acquired ataxia is caused by brain damage from a stroke or severe head injury, it might not be possible to treat the condition.

Treating the symptoms

There are treatments available to help with some of the symptoms.

Speech and language therapy

If you have slurred speech (dysarthria) or swallowing problems (dysphagia), you might see a speech and language therapist.

You might be referred to a dietitian for dietary advice if you have swallowing problems.

Occupational therapy

Occupational therapy can help teach you how to adapt if you lose your mobility. It'll help you develop new skills and teach you new ways of doing daily tasks.

The occupational therapist can advise how you can modify your home to make it more accessible. For example, they might suggest installing a stair lift or guide rails to make it easier for you to get around your house safely.

They might teach you how to use a wheelchair or other mobility devices.

An occupational therapist can also advise how to adapt your daily activities to help you cope better with fatigue.

Physiotherapy

Physiotherapy will aim to help you maintain the use of your arms and legs. It'll try to prevent your muscles weakening or getting stuck in one position. They'll also try to help you increase your stamina to cope with fatigue.

The physiotherapist might teach you physical exercises you can do to strengthen and stretch your muscles.

They'll recommend walking aids if you need them to help you get around.

Muscle problems

If you have muscle problems like muscle spasms, cramps and stiffness, you might be given relaxant medication like baclofen or tizanidine.

If these don't work, you might be offered botulinum toxin injections (botox). This will block the signals from your brain to the affected muscles. The effects can last for up to 3 months.

Bladder problems

Ataxia can cause bladder problems like urinary urgency, or sometimes, urinary incontinence.

Sometimes, bladder problems can be improved by self care techniques like limiting fluid intake during the day and planning regular trips to the toilet. Avoiding drinks like caffeine and alcohol that can stimulate urine production can also help.

You might be offered medication called antimuscarinic to help relax the bladder. This works by reducing the frequent urge to pee (urinate). Injections of botulinum toxin (botox) into the bladder might help too.

Some people with ataxia can find it hard to completely empty their bladder. This can lead to urine leaking out later on. If this happens, it might be necessary to insert a small tube in to the bladder (urinary catheter) to help drain the pee (urine).

Eye problems

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 like reading very difficult. This can sometimes be treated by medication like gabapentin to control the muscles that move the eyes.

You might experience double vision where you see 2 images of an object. This can sometimes be treated by fitting a wedge shaped piece of glass or plastic (prism) to your glasses.

Erectile dysfunction

Some men with ataxia have difficulty getting or maintaining an erection (erectile dysfunction) because of underlying nerve damage.

This can be treated with medication which helps increase blood flow to the penis.

Nerve pain

If you have nerve pain, it might be caused by damage to the nerve endings (neuropathic pain). It's usually described as a burning, aching, shooting or tingling pain in parts of your body.

You might be prescribed amitriptyline, gabapentin or pregabalin to help with the pain. Traditional painkillers like paracetamol, ibuprofen codeine aren't usually effective in treating this type of neuropathic pain.

Cardiomyopathy

Damage to the heart muscle, known as cardiomyopathy can be a feature of inherited ataxia.

It can:

  • put a strain on the heart
  • affect blood flow through the heart
  • cause heart irregularities (arrhythmias)

If you experience cardiomyopathy, you'll see a cardiologist (specialist heart doctor) for regular check ups and might be prescribed medication.

Depression

People with ataxia who have depression or anxiety can be treated with antidepressants or therapy, such as cognitive behavioural therapy CBT.

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Source: Scottish Government

Last updated:
17 April 2023

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