Ataxia

Ataxia is the name for a group of neurological conditions that affect balance, coordination and speech. Any part of the body can be affected, and the condition doesn't show itself the same way in everyone.

If you have ataxia, you may notice you're falling over more often, or that you 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 have only mild symptoms, such as slight balance problems. Others have more severe symptoms and need help to carry out everyday tasks.

Some types of ataxia are inherited, which means the genes that cause them are passed on by one or both parents to their child. Other types aren't inherited. These can come from different things, such as brain damage, diet, or the side effects of certain drugs.

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

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

Spinocerebellar ataxias (SCAs) are caused by mutations in different genes. Research has found more than 100 types of SCA since 1965.

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

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

Episodic ataxia is a rare type of hereditary ataxia, where a person has episodes or attacks of ataxia symptoms. Environmental factors can trigger (cause) these episodes, such as stress, caffeine, alcohol, medicine, physical activity or illness.

There are two ways of ataxia being inherited.

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

If you receive only one mutated gene from one parent, you'll be a carrier for ataxia. This means you won't have the condition yourself, but you 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 have a baby, there's 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 have it 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

If you have autosomal dominant ataxia, you can develop the condition even if you receive only 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 is a type of ataxia that develops during a person's life and is caused by something other than a gene mutation.

It can be caused by:

• conditions like stroke, haemorrhage or transient ischaemic attack (TIA)
• gluten intolerance
• severe head injury
• vitamin deficiency like vitamin E or vitamin B12 deficiency
• drinking too much alcohol over a long period of time (alcohol overuse)
• recreational inhalants (like nitrous oxide)
• bacterial brain infection like meningitis
• viral infection
• cerebral palsy
• multiple sclerosis
• an underactive thyroid
• cancer
• medicine like benzodiazepines

Someone with acquired ataxia may be able to reduce their symptoms, and sometimes stop them altogether, by making changes to their diet or lifestyle. Speak to your doctor before you change your diet.

Idiopathic ataxia is the name doctors use when they can't find what has caused a person's ataxia. It's quite common. Around 50% of people with ataxia have idiopathic ataxia.

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, so it turns up in people who have no family history of ataxia and no known cause for it.

Most of the time, ataxia is caused by damage to the cerebellum, which is a part of the brain. Damage to the spinal cord or the nerves can also cause it.

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

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

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

It can be hard to find out which specific type of ataxia you have, because many conditions look very much alike. A neurologist (a doctor who specialises in conditions affecting the brain) might need to do a number of tests before giving 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.

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

The doctor might ask how much alcohol you drink and what medicine you take. This is because drinking too much and some medicines 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.

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 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

There's no cure for ataxia. But if the cause of your ataxia is known, treating that cause can sometimes ease your symptoms or stop the ataxia getting worse. There are also treatments that help with the symptoms themselves.

Your ataxia may get better, or at least stop getting worse, if doctors can find the cause and that cause can be treated.

The cause may be treatable in these situations:

• If you have ataxia with vitamin E deficiency, vitamin E supplements can often improve it.
• If you have episodic ataxia, a medicine called acetazolamide can often help, and so can avoiding triggers like caffeine, stress and alcohol.
• If you have acquired ataxia, it can sometimes be treated when the cause is something like an infection, where antibiotics or antiviral treatment might help.

But if acquired ataxia comes from brain damage after a stroke or a severe head injury, it might not be possible to treat it.

Some of the symptoms of ataxia can be helped with treatment.

If you have slurred speech (dysarthria) or swallowing problems (dysphagia), you might see a speech and language therapist. If swallowing is a problem, you might also be referred to a dietitian for advice on what to eat.

Occupational therapy can teach you how to adapt if you lose your mobility. You'll build new skills and learn new ways of doing daily tasks. The occupational therapist can also advise on changes to your home so it's easier to move around. They might suggest a stair lift or guide rails, for example, so you can get around the house safely. They might teach you how to use a wheelchair or other mobility devices too. And they can advise on how to adjust your daily activities so you cope better with fatigue.

Physiotherapy will try to help you keep the use of your arms and legs. It will work to stop your muscles weakening or getting stuck in one position, and to build up your stamina so you can cope with fatigue. The physiotherapist might teach you exercises to strengthen and stretch your muscles. They'll recommend walking aids if you need them to get around.

If you have muscle problems like spasms, cramps and stiffness, you might be given a muscle relaxant medicine such as baclofen or tizanidine. If these don't work, you might be offered botulinum toxin injections (botox). These block the signals from your brain to the affected muscles. The effects can last for up to 3 months.

Ataxia can cause bladder problems like urinary urgency and, sometimes, urinary incontinence. Self care can sometimes improve things. Try limiting how much you drink during the day and plan regular trips to the toilet. Cutting out drinks like caffeine and alcohol, which stimulate urine production, can also help. You might be offered a medicine called an antimuscarinic to relax the bladder. It works by reducing the frequent urge to pee (urinate). Botulinum toxin (botox) injections into the bladder might help too.

Some people with ataxia find it hard to empty the bladder completely, and this can lead to urine leaking out later. If that happens, a small tube (urinary catheter) may need to be put into the bladder to drain the pee (urine).

Oscillopsia is an eye problem caused by involuntary movement of the eyes, either side to side or up and down. It disrupts your vision and can make tasks like reading very difficult. It can sometimes be treated with a medicine like gabapentin, which controls the muscles that move the eyes.

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

Some men with ataxia have difficulty getting or keeping an erection (erectile dysfunction) because of underlying nerve damage. Medicine that helps increase blood flow to the penis can treat this.

Nerve pain can be caused by damage to the nerve endings (neuropathic pain). People usually describe it as burning, aching, shooting or tingling pain in parts of the body. You might be prescribed amitriptyline, gabapentin or pregabalin for it. Ordinary painkillers like paracetamol, ibuprofen and codeine aren't usually effective for this type of pain.

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

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