What is Ataxia?

Ataxia is a condition that affects a person’s ability to coordinate their movements and balance. It has multiple causes and occasionally the cause cannot be pinpointed.

Ataxia is normally acquired from an illness, injury or exposure to toxins that results in damage to the brain or spinal cord. It can also be an inherited condition passed down through genes. The most common form of hereditary ataxia is known as Friedreich’s ataxia, which may affect up to 1 in 50,000 people.

What is ataxia?

Ataxia refers to a group of disorders that relate to impaired:

• Balance.
• Coordination.
• Speech.

There are several different types of ataxia. The specific symptoms that a person experiences and how severe they are will depend on the type of ataxia the person is suffering from, as well as its underlying cause.

Ataxia describes a lack of muscle control that can cause issues with any part of the body.

However, it most often causes problems with:

• Walking and balancing.
• Hand coordination.
• Speaking.
• Vision.
• Swallowing.
• Motor skills.

Ataxia is a condition that often gets progressively worse over time (although this varies depending on the type and underlying cause). Once a person’s fine motor skills become affected, they may struggle with day-to-day tasks such as buttoning up a shirt, writing a letter or using cutlery to eat.

The spinal cord is a critical part of the human body. There are a long group of nerves located in the spine that connect the brain to the rest of the body. Ataxia is usually caused by a damaged cerebellum which is found at the base of the brain but it can also be caused when the spinal cord itself or other nerves become damaged.

The condition can be the result of multiple different triggers. Ataxia may be acquired (caused by an injury, infection etc), hereditary (caused by a faulty gene) or result from an unknown cause.

What are the types of ataxia?

Although there are multiple different types of ataxia, they can be grouped into three broad categories:

Acquired ataxia

This occurs when ataxia is developed as a result of trauma or other problems that disrupt the normal function of the brain or nervous system such as:

• A stroke.
• MS.
• Tumour (malignant or benign).
• Nutritional deficiency (especially vitamin E, B-1, B-12 or thiamine. Too much or too little vitamin B-6 is also associated with ataxia).
• Infections (including COVID-19).
• Cerebral Palsy.
• Brain abscess.

Hereditary ataxia

This happens when a person is born with a gene mutation that makes irregular proteins. Usually, the symptoms develop slowly over the years and as the condition progresses your coordination and associated problems get worse.

The gene that causes hereditary ataxia can be passed on from a dominant gene from one parent or a recessive gene from both parents.

Although ataxia always causes issues with coordination, different gene mutations relate to different types of ataxia which come with their own specific signs and symptoms. Genetic testing can pick up some of the more common types of ataxia.

The most common type of hereditary ataxia is called Friedrich’s ataxia. This type of ataxia can cause foot and spinal deformities, heart problems and diabetes, in addition to the more general symptoms associated with ataxia.

Idiopathic late-onset cerebellar ataxia (ILOCA)

If you have developed ataxia and lack the mutated gene and no other underlying cause can be found (such as an illness or injury), your doctor will usually diagnose you with idiopathic late-onset cerebellar ataxia or ILOCA.

This means that although there is evidence that your brain is being damaged over time and you have some of the symptoms associated with ataxia, the cause is unclear. This most often occurs in people during their 50s.

What are the signs and symptoms of ataxia?

Ataxia causes problems with balance, a lack of coordination and clumsiness that, rather than being due to weakness or muscle wastage, is due to brain or nerve dysfunction. Some of the symptoms are sometimes likened to being drunk.

Signs and symptoms of ataxia can include:

• Stumbling whilst walking.
• People becoming unsteady on their feet, walking oddly (such as with the feet spread wide).
• Slurred speech/changes in speech patterns.
• Swallowing problems.
• Poor balance.
• Poor coordination.
• Nystagmus – an involuntary and repetitive movement of the eyes .

Many people who are living with ataxia report additional problems that having a long-term condition can cause, such as:

• Nerve pain.
• Bladder problems.
• Vision/eye issues.
• Erectile dysfunction.
• Fatigue.
• Heart problems.
• Depression.

What causes ataxia?

The part of the brain that controls muscle coordination is called the cerebellum. The cerebellum is vital for processing information and helping the body to make precise and coordinated movements that relate to the environment around you.

When you go to pick up your coffee cup, you need your cerebellum to function correctly so you can decide how quickly you will be able to reach it, how far away it is or the correct amount of force you need to grab it. Ataxia symptoms may cause someone to knock the cup over or grasp it too quickly and spill it.

Ataxia will usually occur after this important part of the brain (or its connections) somehow become damaged.

There are various conditions that can damage the cerebellum and cause a person to acquire ataxia, such as:

• Multiple Sclerosis (MS).
• Stroke.
• Tumour.
• Degenerative brain condition.
• Alcoholism.
• Head injury (such as from a car crash or serious fall).
• Viral or bacterial brain infection.
• Underactive thyroid.
• Chemical toxins or medication.
• Vitamin deficiency.

Ataxia can also occur due to other reasons such as a lack of oxygen to the brain, as a side effect of taking certain medications or from a mutated gene. Ataxia that occurs due to a gene being passed on is called hereditary ataxia.

Not everyone who has the gene will develop issues relating to the condition and may not know that they carry the gene until a child or relative is diagnosed with ataxia.

How is ataxia diagnosed?

You should always visit your GP if you develop any of the symptoms of ataxia. If the symptoms present themselves as an emergency, you should always dial 999 or visit your local emergency department immediately.

When you visit your GP to discuss any problems you may be having, they will want to ask you some routine questions and run some diagnostics.

This may include:

• Questions about your family history (you are at a higher risk of developing ataxia if you have the chance of inheriting the gene).
• An overview of your symptoms (including how long they have been occurring for and how severe they are).
• Gathering information about your general health (including how much alcohol you drink and any medication you take as both can cause ataxia to come on suddenly).
• Diagnostic tests such as blood and urine tests (to rule out other causes of your symptoms).

You may require further testing with a specialist. This usually requires a referral to a neurologist (a doctor that specialises in conditions relating to the brain and nervous system). Children may be sent to a paediatrician for further testing.

If you are experiencing symptoms of ataxia and require further testing, your specialist doctor may wish to investigate using:

• Genetic testing – A sample of blood may be taken to check your DNA for any gene mutations that are known to cause ataxia. Current tests are only able to distinguish the genetic mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and the majority of spinocerebellar ataxias.
• MRI scan – MRI scanners can use strong magnetic fields and radio waves to generate a picture of what is happening inside the brain/spine/nervous system.
• CT scan – Computerised tomography uses a sequence of X-rays and a computer to generate a picture of the inside of the body.
• Lumbar puncture – A hollow needle is used to extract a sample of spinal fluid to be checked for infection or other anomalies.
• EMG testing – This type of test uses small needles that are inserted through the skin into the muscles to test nerve and muscle function.
• ECG – An electrocardiogram is used to assess the electric signals the heart emits as it beats. This test is often used in conjunction with other tests to check how the heart is functioning.
• Video fluoroscopy – Also called a barium swallow, this is a diagnostic test that looks inside the body to assess a person’s swallowing capabilities and looks for any abnormalities. A patient will chew and swallow food/liquid as well as a contrast dye (barium) that helps it to show up on an X-ray.
• Echocardiogram – This is an ultrasound that is done on the heart to check its function.

It may seem nerve-wracking to have to undergo uncomfortable or invasive diagnostic tests. It is important that you allow these to go ahead so that you can get the correct diagnosis and treatment to help you with your symptoms.

Once you have undergone the relevant diagnostics, specialists will be able to conduct an assessment and draw a conclusion as to whether you have ataxia and how it is affecting your body. These results will inform your treatment plan moving forward.

How is ataxia treated?

If ataxia has occurred due to a vitamin deficit, in most cases addressing the nutritional deficiency will reverse the symptoms. Unfortunately, for most other causes, there is usually no cure for ataxia and treatment is focussed on controlling and limiting the symptoms associated with the condition.

It is important to understand the underlying cause of the ataxia symptoms in order to guide sufferers towards the correct treatment.

Treating ataxia often requires a multi-disciplinary approach and may consist of any of the following treatment options:

• Speech and language therapy – You may attend a series of appointments with a speech and language therapist who will be able to advise you on how to make your speech clearer and more controlled. They may advise you to improve your posture as you speak. The therapist will also be able to show you breathing techniques and exercises to help with speech and swallowing. You may also want to consider if you would benefit from using communication aids, such as a computer device.
• Dietician advice – If you are suffering from dysphagia (swallowing problems) a dietician may be able to help you to devise a diet that is easier to swallow and advise you on which foods to avoid.
• Physiotherapy – A trained physiotherapist will be able to show you some exercises that will strengthen your muscles and help you to be able to use your limbs for a longer period of time.
• Medication – Muscle relaxants such as baclofen or tizanidine can help with muscle cramping and spasms. Botox injections can also be given that can provide relief for up to 3 months. Medication can also be prescribed for the pain that ataxia can cause to sufferers.
• Occupational therapy – An occupational therapist can give advice about how you can adapt your lifestyle to accommodate your condition. This might include things like modifications you can make to your home or any mobility aids that may make your life easier.
• Walking equipment/aids – Wheelchairs, walkers, sticks etc will help with the mobility and walking issues that eventually affect the majority of ataxia sufferers.

If you are experiencing ataxia symptoms because of a serious, underlying condition, it is also important that you receive swift and effective treatment for it before you experience any further side effects. This may require a stay in hospital.

You may be able to treat the underlying causes of acquired ataxia, therefore reducing your symptoms, by:

• Taking vitamin supplements.
• Identifying and avoiding triggers such as stress, alcohol or caffeine.
• Treating infections with antibiotics or antivirals.

What is the outlook for people with ataxia?

The outlook for people who receive treatment for ataxia varies widely, depending on the type of ataxia they have and the underlying causes.

Those with hereditary ataxia may have a shorter life expectancy than other people, although with treatment and medicine many are able to live into their 50s and 60s.

If acquired ataxia has been caused due to severe brain damage such as from a stroke or catastrophic head injury then the chance of the condition improving becomes less likely. In such cases, it is still possible to use treatment to control the symptoms and keep the patient as comfortable as possible.

Although not currently curable, sufferers of ataxia should take advantage of any support and treatment that is available to them to help them to manage their symptoms and improve their quality of life.