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Neuromuscular diseases

Friedreich ataxia

An inherited disease of the nervous system. Balance and coordination of movement worsen over time. The heart can also be affected.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

A change in the FXN gene reduces a protein called frataxin. This protein is important for the mitochondria, the cell's power plants. When there is too little of the protein, some nerve and muscle cells cannot work well. The nervous system and the heart are affected most.

Which symptoms can occur?

Symptoms usually begin between the ages of 5 and 15. In about 1 in 4 people, they begin after the age of 25.

  • Unsteadiness and frequent falls; this is often the first symptom
  • Uncoordinated movements of the arms and legs, called ataxia
  • Changes in speech
  • Loss of strength and feeling in the legs, loss of reflexes
  • Thickening of the heart muscle, called hypertrophic cardiomyopathy
  • Curvature of the spine and high foot arches
  • Hearing loss (about 10%)
  • Diabetes (in some people)

How is it diagnosed?

The doctor does a neurological examination. The diagnosis is made with a genetic test that looks at the number of repeats in the FXN gene. ECG and echocardiography for the heart, as well as nerve tests, MRI and blood sugar tests, may be done.

Treatment and care

There is an approved treatment specific to the disease. This medicine was approved in the USA in 2023 and in Europe in 2024. Its aim is to slow the progression of the disease. Physiotherapy, speech therapy and walking aids support daily life. Orthoses can be used for spine and foot problems. Heart disease and diabetes are checked regularly and treated. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Recessive diseases can be more common in families where relatives marry each other. Genetic counselling helps the family understand the risk.

Source: MedlinePlus Genetics: Friedreich ataxia · MedlinePlus Medical Encyclopedia: Friedreich ataxia · EMA: Friedreich ataksisi için onaylı ilaç (EPAR)

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Adolescence, Childhood
Gene(s) involved
FXN

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Friedreich ataxia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 17 active interventional studies for this disease. 9 are recruiting now; 1 has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:95 · ICD-11 8A03.10

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.