Hereditary ataxia

Your care team

Hereditary ataxia is treated by a combination of different healthcare professionals. These individuals, who have their own areas of expertise, work together as a team. This type of team is known as a multi-disciplinary team (MDT).

For example, your care team may include:

• a neurologist: a specialist in treating conditions that affect the brain and nervous system
• a cardiologist: a specialist in treating heart conditions
• an ophthalmologist: an eye care specialist
• a urologist: a specialist in treating conditions that affect the bladder, such as urinary incontinence
• a physiotherapist: a therapist who helps people by improving their range of movement and co-ordination
• a speech and language therapist
• a psychologist: a mental health specialist
• a social worker
• an occupational therapist: someone who helps people to improve the skills and abilities that they need for 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

Your care plan

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

A care plan is an important part of the management of a long-term condition, such as ataxia. The purpose of your care plan is to assess what physical, social and psychological needs you have. It will address how these needs can best be met and assess what needs may arise in the future

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

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

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

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

Speech and language therapy (SLT)

A speech and language therapist can help you with two of the most common symptoms of ataxia:

• slurred speech (dysarthria)
• swallowing problems (dysphagia)

The therapist can provide you with advice 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 that are used when speaking
• learning to speak more slowly in order to emphasise each word better 
• using breathing techniques to improve your speech

If your slurred speech worsens, you may want to consider using speaking aids, such as a laptop computer that is connected to a voice synthesizer. Your therapist can advise you about the equipment available.

To treat dysphagia, your therapist can teach you exercises that can stimulate the nerves used to trigger your swallowing reflex and strengthen the muscles that you use during swallowing.

You may be referred to a nutritionist who will advise you about making changes to your diet to include food that is easier to swallow while also ensuring that you eat a healthy, balanced diet.

Read more about the treatment of 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 can teach you how to use a wheelchair and walking aids, such as crutches. They can also advise you about modifications you can make to your house, such as guiderails or a stair lift, to make your life easier.

Read more about occupational therapy.

Physiotherapy

In people with ataxia, physiotherapy can prevent your muscles from weakening or getting stuck in one position (contracture).

Your physiotherapist can teach you a number of physical exercises that you can do every day to 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 are 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 (BTA) may be given. BTA works by blocking the signals from the brain to the affected muscles.

The effects of the injection normally last for up to three months.

Bladder problems

Bladder problems, such as urinary incontinence, can be common in people with hereditary ataxia.

In some cases these 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 class of medication known as antimuscarinic. This helps to relax the bladder, reducing the frequent urge to urinate. Read more about the treatment of urinary incontinence.

Some people 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 at a later time.

In these cases it may be necessary to insert a small tube known as a catheter into the bladder to help drain urine out.

Read more about urinary catheterisation.

Eye problems

Eye problems are also common in cases of hereditary ataxia.

Oscillopsia is a visual disturbance caused by the eyes moving involuntarily from side to side or swinging up and down. This can sometimes cause disruption to vision and make tasks such as reading difficult.

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

A less 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, known as a prism, to your glasses. 

Erectile dysfunction

Due to underlying nerve damage some men with hereditary ataxia will experience difficulties obtaining or maintaining an erection. This is known as erectile dysfunction.

Erectile dysfunction in cases of ataxia can often be treated using a group of medications known as phosphodiesterase-5 (PDE-5) inhibitors. These help increase the flow of blood to the penis and include Viagra (sildenafil).

Read more about the treatment of erectile dysfunction.

Fatigue

Many people with neurological conditions such as ataxia report feeling unusually tired and lacking in energy.

It is thought that part of the explanation for this fatigue is disturbed sleep during the night 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 designed to increase your stamina levels, and an occupational therapist should be able to provide advice on how to adapt your daily activities to help cope better with fatigue.

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 alternatively as tingling in certain parts of the body.

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

Read more about the treatment of neuropathic pain.

Cardiomyopathy

Cardiomyopathy (damage to the heart muscle) is a common complication of Friedreich's ataxia, occurring in one out of every two cases.

Left untreated, cardiomyopathy can be serious as it can place strain on the heart, affect the normal flow of blood through the heart and cause irregularities with how the heart beats (arrhythmias).

If you do develop cardiomyopathy, you will receive regular check-ups from a cardiologist (heart specialist).

Cardiomyopathy is difficult to treat and there is no known cure for this complication.  

Depression

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

Signs that you may be depressed include:

• during the past month you have been feeling down or hopeless
• you no longer take pleasure in things you enjoy

If you think you may be depressed you should contact your GP for advice. There are several relatively effective treatments for depression, such as antidepressant medication and talking therapies such as cognitive behavioural therapy.

You may also find it useful to contact Ataxia UK, which is a leading charity for people affected by ataxia.

They have a helpline, 0845 644 0606, which is open from 10.30am to 3.30pm on Monday to Thursday, and 10.30am to 1pm on Fridays. Alternatively, you can email them on helpline@ataxia.org.uk.  

Acquired ataxia

The recommended treatment for acquired ataxia will depend on the underlying cause and whether your ataxia 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 anti-virals to treat the underlying infection should help resolve the symptoms.

If the ataxia is due to serious underlying brain damage, such as damage arising from a stroke or a severe head injury, it is 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 (ILOA)

Idiopathic late onset cerebellar ataxia (ILOA) is treated in the same way as hereditary ataxia, although, as the symptoms tend to be less severe and wide ranging, you should not require many of the treatments that are discussed above.