Friedreich’s Ataxia

Friedreich’s Ataxia

What is Friedreich’s ataxia?

Friedreich’s ataxia (FA) is a rare inherited neurological condition that causes progressive damage to the nervous system.

It mainly affects coordination, balance and movement, which is known as ataxia. Over time, Friedreich’s ataxia can also affect speech, muscle strength, sensation and other parts of the body, including the heart and pancreas.

Friedreich’s ataxia is caused by changes in the FXN gene, which affects the body's production of a protein called frataxin. Frataxin plays an important role within the mitochondria, the parts of cells responsible for producing energy.

Reduced levels of frataxin can disrupt how cells handle iron and increase oxidative stress. Over time, this can damage nerve and muscle cells, particularly those involved in movement, coordination and sensation.

Friedreich’s ataxia is a progressive condition, meaning that symptoms can change over time. However, the rate and pattern of progression varies considerably between individuals.

There is currently no cure for Friedreich’s ataxia, but medical treatment, rehabilitation and wider support can help manage symptoms and maintain function and independence for as long as possible.

Is there medication for Friedreich’s ataxia?

There is now a medicine specifically approved for Friedreich’s ataxia called omaveloxolone (Skyclarys).

In the UK, the Medicines and Healthcare products Regulatory Agency (MHRA) approved omaveloxolone in April 2025 for people aged 16 years and over with Friedreich’s ataxia. It works by activating the Nrf2 pathway, which helps cells respond to oxidative stress.

Whether omaveloxolone is appropriate depends on an individual's circumstances and should be discussed with their specialist medical team. It is used alongside, rather than instead of, rehabilitation and supportive care.

What causes Friedreich’s ataxia?

Friedreich’s ataxia is caused by changes in both copies of the FXN gene.

It is inherited in an autosomal recessive pattern. This means that a child usually inherits one altered copy of the gene from each parent.

When both parents are carriers:

• There is a 25% chance that a child will inherit both altered copies and have Friedreich’s ataxia.

• There is a 50% chance that a child will inherit one altered copy and be a carrier.

• There is a 25% chance that a child will inherit neither altered copy.

Carriers do not usually have symptoms of Friedreich’s ataxia.

Genetic counselling can provide families with more detailed information about inheritance and genetic testing.

Who does Friedreich’s ataxia affect?

Friedreich’s ataxia can affect males and females equally.

Symptoms often begin during childhood or adolescence, commonly between the ages of 5 and 15, although there is considerable variation.

Some people develop symptoms during adulthood. These are sometimes described as late-onset or very-late-onset Friedreich’s ataxia, depending on the age symptoms begin.

The age at which symptoms start and how quickly they progress can vary significantly, even between members of the same family.

What are the symptoms of Friedreich’s ataxia?

Symptoms can vary between individuals and usually develop gradually.

Common symptoms and challenges can include:

• Increasing problems with balance and coordination

• Unsteady walking and frequent falls

• Difficulty coordinating movements of the arms and hands

• Muscle weakness

• Reduced or absent reflexes

• Changes in sensation

• Slurred, slower or less clear speech (dysarthria)

• Fatigue

• Difficulty with fine motor tasks

• Changes in walking pattern

• Foot deformities, including pes cavus (high-arched feet)

• Scoliosis

• Difficulties with swallowing in some people

• Heart problems, including cardiomyopathy

• Diabetes or impaired glucose regulation

• Difficulties with everyday activities and independence

Fatigue can make movement and everyday tasks feel more difficult, particularly when a person is already using more energy to maintain their balance and coordination.

How can Friedreich’s ataxia affect mobility?

Because Friedreich’s ataxia is progressive, a person's mobility and support needs can change over time.

Earlier stages

Someone may initially notice:

• Increasing unsteadiness when walking

• Difficulty on uneven surfaces

• More frequent trips or falls

• Reduced confidence when moving around

• Walking becoming more tiring

• Difficulty with stairs

• Reduced coordination during sport or physical activities

A walking aid may become useful for some people to improve stability and confidence.

As symptoms progress

Longer distances can become increasingly tiring or difficult, and some people may begin to use a wheelchair or other mobility equipment.

A wheelchair does not necessarily mean that someone has stopped walking. Many people use different mobility options depending on the environment, distance and activity they want to participate in.

For example, someone may continue to walk short distances but use a wheelchair for longer outings, school, work or community activities.

The aim of rehabilitation is to help each person use the most appropriate and safe form of mobility for what matters to them.

How can physiotherapy help with Friedreich’s ataxia?

Physiotherapy cannot change the underlying genetic cause of Friedreich’s ataxia or stop the condition from progressing.

However, physiotherapy can help people maintain strength, balance, mobility and function, manage the physical effects of the condition and develop safe and energy-efficient ways of moving.

A physiotherapy programme may include:

Balance and coordination

We can use activities such as:

• Sit-to-stand practice

• Standing exercises

• Stepping activities

• Reaching tasks

• Balance exercises

• Coordination activities

• Visual feedback

These activities can be adapted to the person's abilities and goals and may help them practise moving safely and confidently.

Strength and cardiovascular exercise

Maintaining muscle strength and physical fitness can support functional mobility and everyday activities.

Exercise needs to be individually tailored, taking into account the person's symptoms, fatigue, cardiovascular health and current abilities.

Our physiotherapists can help develop an appropriate programme that can be progressed or adapted as the person's needs change.

Stretching and postural management

Some people with Friedreich’s ataxia develop changes in posture, scoliosis or foot deformities such as pes cavus.

Physiotherapy may include appropriate stretching, positioning and movement strategies to support comfort, posture and functional movement.

Where more complex postural or orthotic needs are identified, we can work alongside the relevant specialist teams.

Walking and mobility

For people who are still walking, physiotherapy may focus on:

• Gait assessment

• Walking practice

• Balance

• Falls prevention

• Transfers

• Stairs

• Walking endurance

• Safe use of mobility aids

The aim is to help someone move as safely and efficiently as possible while supporting the activities that are important to them.

Wheelchair skills and transfers

When a wheelchair becomes part of someone's mobility, physiotherapy can continue to support independence.

This may include:

• Safe transfers

• Trunk control

• Upper-limb function

• Wheelchair mobility

• Moving between different surfaces

• Maintaining physical activity

• Positioning and comfort

Using a wheelchair can be an important way of maintaining independence and participation rather than simply being an indication that someone can no longer walk.

Fatigue and energy management

Fatigue is common in Friedreich’s ataxia and can have a significant impact on everyday activities.

Physiotherapy can help people consider how they use their energy throughout the day and identify ways of making movement more efficient.

This may include adapting activities, planning rest periods and choosing the most appropriate mobility option for different situations.

Orthotics and equipment

Some people with Friedreich’s ataxia may benefit from orthotics, mobility aids or other equipment.

Where appropriate, our physiotherapists can work alongside orthotists and other professionals to support the use of equipment such as ankle-foot orthoses, walking aids or wheelchairs.

Equipment should be selected based on the individual's needs, comfort, safety and goals.

Hydrotherapy for Friedreich’s ataxia

Hydrotherapy is a form of physiotherapy that takes place in a warm-water pool. It can provide a supportive environment for people with Friedreich’s ataxia to work on movement, strength, balance and mobility.

The buoyancy of the water reduces the amount of weight placed through the body, which can make some movements easier or more comfortable. This can be particularly useful for someone who finds standing or walking difficult on land.

The resistance provided by the water can also be used to work on:

• Strength

• Movement control

• Balance

• Coordination

• Walking and stepping

• Cardiovascular fitness

• General physical activity

Exercises can be adapted to the person's abilities and may include walking through the water, stepping, reaching, balance activities and functional movements.

Hydrotherapy can also provide an opportunity to stay physically active when land-based exercise has become more difficult. As with all physiotherapy, activities are selected according to the individual's symptoms, goals, fatigue levels and wider health needs.

Specialist equipment at Positive Steps

At Positive Steps, we have a range of specialist rehabilitation equipment that may be incorporated into physiotherapy sessions where appropriate.

Equipment is selected according to the person's age, abilities, symptoms and goals and forms part of a wider rehabilitation programme.

EzyGain Treadmill

The EzyGain treadmill uses body-weight support to help provide a controlled environment for walking practice.

For someone with Friedreich’s ataxia who is still ambulant, it may be used to support structured walking practice while reducing some of the demands of maintaining balance.

It can be incorporated into gait training to work on stepping, walking, coordination and confidence.

MOTOmed

The MOTOmed provides assisted or active repetitive movement of the arms and legs.

It can be particularly useful when conventional exercise is difficult or when someone would benefit from repetitive movement practice.

The MOTOmed can be used by people with different levels of mobility and can be incorporated into a programme alongside other strengthening, mobility and cardiovascular activities.

BlazePods

BlazePods can be used to create interactive activities that challenge balance, coordination, reactions and movement.

For someone with Friedreich’s ataxia, they can be incorporated into standing, stepping, reaching or walking activities to encourage active movement and coordination in an engaging way.

The position and difficulty of the targets can be adapted to the individual's abilities.

Hypervibe

The Hypervibe uses whole-body vibration and may be incorporated into a rehabilitation programme where clinically appropriate.

Depending on the individual's presentation and goals, it may be used alongside other activities as part of a programme focusing on muscle activation, strength, balance and weight-bearing.

Choosing the right equipment

Not every person with Friedreich’s ataxia will need or benefit from every piece of equipment.

Our physiotherapists assess each person's presentation, abilities, goals and current stage of the condition before deciding which equipment or activities may be appropriate.

What does physiotherapy look like at Positive Steps?

There is no single physiotherapy programme for Friedreich’s ataxia.

The condition affects everyone differently, and an individual's needs can change over time.

At Positive Steps, we work with children and adults at different stages of Friedreich’s ataxia, from those who are beginning to notice changes in balance and coordination through to people who use a wheelchair for some or all of their mobility.

Sessions are built around:

• What the person can currently do

• What they would like to achieve

• What matters most to them

• Their home, school, work and social environment

• Their current symptoms and energy levels

• How their condition is changing over time

We regularly review physiotherapy goals and adapt the programme as needs change.

Working with the wider team

Friedreich’s ataxia can affect several different areas of health, so people may have support from a wider multidisciplinary team.

This can include neurologists, cardiologists, physiotherapists, occupational therapists, speech and language therapists, orthotists, dietitians, psychologists and other specialists.

At Positive Steps, we value working alongside individuals, families and the other professionals involved in someone's care to ensure physiotherapy complements their wider management.

Little Steps and Positive Movements

For younger children working on movement and developmental milestones, our Little Steps sessions provide fun, play-based opportunities to practise movement and physical skills alongside other children.

For adults experiencing difficulties with balance, strength or mobility, our Positive Movements sessions provide a supportive group environment where people can work on movement and physical activity while building confidence alongside others.

What are the goals of physiotherapy for Friedreich’s ataxia?

Physiotherapy goals will be different for every person, but may include:

• Maintaining strength and physical function

• Supporting balance and coordination

• Reducing the risk and impact of falls

• Encouraging safe and efficient movement

• Supporting walking and other forms of mobility

• Managing fatigue and energy use

• Supporting posture and comfort

• Maintaining independence

• Supporting safe transfers and wheelchair skills

• Helping people continue participating in school, work, hobbies and social activities

• Providing education and advice for individuals and families

• Adapting rehabilitation as the condition changes

How can Positive Steps help?

Friedreich’s ataxia is a progressive condition, but the right combination of medical care, rehabilitation, equipment and support can help people maintain function and participate in the things that matter to them for as long as possible.

At Positive Steps, we work with children and adults at different stages of Friedreich’s ataxia, providing personalised physiotherapy that changes as their needs change.

Our aim is to help every person move as safely, comfortably and confidently as possible, while supporting their independence and participation in everyday life.

Always finding what can be done.

If you or a loved one has Friedreich’s ataxia and would like to discuss how physiotherapy could help, please get in touch with the Positive Steps team to arrange an assessment.

Find out more about Friedreich’s ataxia

For further information and support, you may find the following organisations useful:

• NHS – information about Friedreich’s ataxia and hereditary ataxias

• Ataxia UK – information, advice and support for people affected by ataxia and their families

• Friedreich’s Ataxia Research Alliance (FARA) – information and research about Friedreich’s ataxia

• Friedreich Ataxia Global Clinical Consortium – information about research and specialist clinical care

Medical treatment, including medication such as omaveloxolone, should always be discussed with the person's specialist medical team.