Friedreich-ataxia

What is it?

Friedreich ataxia is caused by a change in a gene called FXN.³ The gene gives instructions for making frataxin, a protein that is important for mitochondria, the energy-producing centers within cells.³ In people with the condition, a small part of the gene is repeated far too many times, so the body makes too little frataxin.³ Certain nerve and muscle cells cannot work properly when there is too little frataxin.³

It is the most common inherited ataxia, but still rare: at least 1 in 50,000 people, and about 1 in 40,000 in the US.^1,3,4 Most people begin to have symptoms between ages 5 and 15; about 1 in 4 people have a form in which symptoms begin after age 25.³ A child gets it only when both parents pass on the altered gene; the parents are usually healthy carriers.³

The first signs

Poor coordination and balance are often the first signs you notice.³

• unsteadiness, clumsiness and falling often;¹
• speech that becomes slow and slurred;¹
• weak legs;¹
• less feeling in the hands and feet.¹

How doctors find out

Your GP asks about your symptoms, any ataxia in the family, alcohol and medicines, and checks your balance, walking and coordination.⁵ You are referred to a neurologist, or a paediatrician for children, for further tests; a genetic blood test can find the gene change responsible for Friedreich's ataxia.⁵ Other tests may include an MRI scan of the brain, nerve and muscle tests, and heart tests (ECG and an ultrasound scan of the heart).⁵

Jelenlegi kezelés

Therapy and medicines for symptomsForrás: NHS

Will it get worse?

Yes, the symptoms usually get gradually worse over many years.¹ Signs can also include difficulty swallowing, curving of the spine (scoliosis), and total or partial vision loss and hearing loss.¹ Some people get diabetes.³ Many get a thickened heart muscle, which can cause chest pain, breathlessness and an uneven heartbeat, and can be life-threatening.^1,3 Many people need a wheelchair 10 to 20 years after it starts.¹ People with the condition tend to have a shorter life expectancy than normal; many people live until at least their 30s, and some can live into their 60s or beyond.¹

Medicines: what helps, and what to watch for

In 2025 the UK medicines regulator approved omaveloxolone (Skyclarys), a capsule, as the first treatment for Friedreich ataxia, for people aged 16 and over.⁴ In a trial of 103 people aged 16 to 40, it reduced physical problems more than a dummy medicine after 48 weeks.⁴ Other medicines ease single symptoms: muscle relaxants such as baclofen or tizanidine, or botulinum toxin injections, for stiff muscles; medicines for bladder problems; and amitriptyline, gabapentin or pregabalin for nerve pain.⁶

Good to know:

• damage to the heart muscle (cardiomyopathy) is a common problem in some types of ataxia; if you develop it, you will have regular check-ups with a heart specialist and may need medicine;⁶
• ordinary painkillers such as paracetamol or ibuprofen are not usually effective for nerve pain;⁶
• for bladder problems, limiting how much you drink during the day, planning regular trips to the toilet and avoiding drinks such as caffeine and alcohol can help in some cases;⁶

Exercise and therapy help too

A team, often a neurologist, a physiotherapist and a specialist nurse, makes a care plan with you.⁶

• daily physiotherapy exercises keep your muscles strong and supple; walking aids can help;⁶
• a speech and language therapist can help with slurred speech and swallowing problems; your diet may need to include food that is easier to swallow;⁶
• an occupational therapist helps with daily tasks, wheelchair use and changes at home, such as rails or a stairlift;⁶
• a physiotherapist may be able to help you build up your stamina, and an occupational therapist can advise you how to adapt your daily activities, to help you cope with tiredness.⁶

Support and daily life

You will normally have regular appointments with your care team or GP to review your progress, and in some cases you may be seen in a specialist ataxia centre.⁶ An occupational therapist can teach you how to use a wheelchair and other mobility devices, and advise you about changes to your home, such as guide rails or a stair lift, to make life easier.⁶ Ataxia UK, a charity for people living with ataxia, gives information about ataxia services and has a helpline.⁶

Is there a cure?

No, in most cases there is no cure for ataxia.² In most cases there is no cure, and supportive treatment to control the symptoms is needed.² Omaveloxolone is the first medicine approved in the UK for the condition itself, for people aged 16 and over.⁴

Források

1. NHS: Ataxia – Types (symptoms)
2. NHS: Ataxia – Overview
3. MedlinePlus Genetics: Friedreich ataxia
4. MHRA (UK medicines regulator): MHRA approves first UK treatment for Friedreich's ataxia, omaveloxolone
5. NHS: Ataxia – Diagnosis
6. NHS: Ataxia – Treatment

olvasva: 2026-11-11