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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Neurology

Symptoms & Multisystem Impact of Friedreich Ataxia

At a Glance

Friedreich Ataxia (FRDA) is a progressive, multisystem condition that affects the nervous system, heart, bones, and endocrine system. Early symptoms typically include balance and speech difficulties. New disease-modifying therapies are now available to help slow this progression.

Friedreich Ataxia (FRDA) is a multisystem condition, meaning it affects several different parts of the body at once [1]. Because the protein deficiency (frataxin) happens in almost every cell, symptoms can appear in the nervous system, the heart, the bones, and the endocrine system [2][3].

Understanding these symptoms as part of a single condition can help you and your care team manage them more effectively.

Neurological Symptoms

The nervous system is usually where symptoms are first noticed.

  • Ataxia: This is the hallmark symptom, characterized by a lack of muscle coordination. It often starts as gait ataxia (difficulty walking) or a “clumsy” feeling [4].
  • Dysarthria: This refers to changes in speech. You may notice speech becomes slower, slurred, or has a different rhythm [5].
  • Dysphagia: Difficulty swallowing is a critical symptom that can develop. It carries a risk of choking and aspiration pneumonia, so it is important to watch for coughing while eating or drinking [6].
  • Peripheral Neuropathy: Damage to the nerves outside the brain and spinal cord can lead to a loss of sensation, particularly in the feet and hands [7].
  • Fatigue: Many people experience significant exhaustion as the body works harder to coordinate movement and manage energy production [2]. Pacing daily activities and exploring energy conservation techniques with an occupational therapist is very helpful [8].

Cardiac Impact

The heart is a very energy-demanding organ, making it sensitive to low frataxin levels [3].

  • Hypertrophic Cardiomyopathy (HCM): This is a thickening of the heart muscle. While it may not cause symptoms early on, it can affect how efficiently the heart pumps blood [9][10].
  • Arrhythmias: Some patients may develop irregular heartbeats over time [9].

Musculoskeletal Changes

FRDA can affect how the body is built and how it moves through space.

  • Scoliosis: A curvature of the spine is common, especially in those diagnosed during childhood growth spurts [11].
  • Pes Cavus: This is the medical term for high foot arches. It is a common sign of the nerve changes associated with FRDA [7].

Endocrine System (Diabetes)

Approximately 8% to 10% of people with FRDA develop diabetes mellitus [12]. This happens because the pancreas may not produce enough insulin or the body becomes less sensitive to it. Risk increases with age and disease duration [12].

How Symptoms Evolve Over Time

The progression of FRDA is gradual and depends heavily on the age of onset (when symptoms first appear):

  • Typical Onset (Before Age 25): Usually presents with a more rapid change in symptoms. Historically, children diagnosed before age 15 typically transitioned to using a wheelchair for mobility about 10 to 15 years after their first symptoms appeared [13][14]. However, it is important to note that this 10-15 year timeline is based on historical data collected before the approval of new disease-modifying therapies. New treatments aim to change this trajectory [15].
  • Late-Onset (After Age 25): Known as LOFA, these cases often progress more slowly and may have fewer non-neurological symptoms (like heart issues) [16][17].

As the disease progresses, doctors use scales like the mFARS (modified Friedreich Ataxia Rating Scale) to track changes in coordination and speech, helping to tailor treatments to your current needs [18][19].

Common questions in this guide

What are the first symptoms of Friedreich Ataxia?
The first signs typically appear in the nervous system. The most common early symptom is gait ataxia, which causes difficulty walking, poor balance, or a feeling of clumsiness. Early changes in speech clarity may also occur.
How does Friedreich Ataxia affect the heart?
Because the heart requires a lot of energy to function, it is very sensitive to the protein deficiency caused by FRDA. This can lead to hypertrophic cardiomyopathy, which is a thickening of the heart muscle, as well as irregular heartbeats.
Will I eventually need a wheelchair?
Historically, people diagnosed in childhood often transitioned to using a wheelchair 10 to 15 years after symptoms started. However, everyone's progression is different, and new disease-modifying therapies are aiming to change this timeline and preserve mobility longer.
What is late-onset Friedreich Ataxia (LOFA)?
Late-onset Friedreich Ataxia, known as LOFA, means symptoms first appeared after age 25. People with LOFA generally experience a slower progression of the disease and often have fewer complications involving the heart or bones.
How do doctors monitor symptom progression?
Doctors use clinical tools like the modified Friedreich Ataxia Rating Scale (mFARS) to track changes in your coordination, speech, and movement over time. This helps your care team adjust your treatments and therapies as your needs change.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given the current age and symptoms, what stage of the disease is the patient currently in?
  2. 2.How often should we repeat cardiac screenings like EKGs and echocardiograms?
  3. 3.Is the patient showing signs of scoliosis or pes cavus that require a referral to an orthopedic specialist?
  4. 4.What specific symptoms of diabetes should we be watching for at home?
  5. 5.How do you expect the speaking rate and speech clarity (dysarthria) to change over the next few years?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (19)
  1. 1

    Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

    Reetz K, Dogan I, Hohenfeld C, et al.

    Neurology 2018; (91(10)):e917-e930 doi:10.1212/WNL.0000000000006121.

    PMID: 30097477
  2. 2

    Therapeutic Prospects for Friedreich's Ataxia.

    Zhang S, Napierala M, Napierala JS

    Trends in pharmacological sciences 2019; (40(4)):229-233 doi:10.1016/j.tips.2019.02.001.

    PMID: 30905359
  3. 3

    The Therapeutic Potential of Targeting Ferroptosis in the Treatment of Mitochondrial Cardiomyopathies and Heart Failure.

    Cantrell AC, Zeng H, Chen JX

    Journal of cardiovascular pharmacology 2024; (83(1)):23-32 doi:10.1097/FJC.0000000000001496.

    PMID: 37816193
  4. 4

    Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics.

    Mahale R, Purushottam M, Singh R, et al.

    Annals of Indian Academy of Neurology 2024; (27(2)):152-157 doi:10.4103/aian.aian_1001_23.

    PMID: 38751907
  5. 5

    Voice in Friedreich Ataxia.

    Vogel AP, Wardrop MI, Folker JE, et al.

    Journal of voice : official journal of the Voice Foundation 2017; (31(2)):243.e9-243.e19 doi:10.1016/j.jvoice.2016.04.015.

    PMID: 27501923
  6. 6

    Dysphagia in Friedreich Ataxia.

    Keage MJ, Delatycki MB, Gupta I, et al.

    Dysphagia 2017; (32(5)):626-635 doi:10.1007/s00455-017-9804-4.

    PMID: 28474131
  7. 7

    Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

    Salomão RPA, Gama MTD, Rezende Filho FM, et al.

    Cerebellum (London, England) 2017; (16(2)):599-601 doi:10.1007/s12311-016-0822-9.

    PMID: 27687732
  8. 8

    Patient-Reported Impact of Symptoms in Friedreich Ataxia.

    Seabury J, Alexandrou D, Dilek N, et al.

    Neurology 2023; (100(8)):e808-e821 doi:10.1212/WNL.0000000000201598.

    PMID: 36443012
  9. 9

    Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report.

    Ouaddouh Y, Bouyaddid S, Bazid Z, et al.

    Radiology case reports 2025; (20(6)):3016-3020 doi:10.1016/j.radcr.2025.03.001.

    PMID: 40224233
  10. 10

    The cardiomyopathy of Friedreich's ataxia common in a family: A case report.

    Amini O, Lakziyan R, Abavisani M, Sarchahi Z

    Annals of medicine and surgery (2012) 2021; (66()):102408 doi:10.1016/j.amsu.2021.102408.

    PMID: 34136207
  11. 11

    Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.

    Rummey C, Flynn JM, Corben LA, et al.

    Annals of clinical and translational neurology 2021; (8(6)):1239-1250 doi:10.1002/acn3.51352.

    PMID: 33949801
  12. 12

    Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

    Tamaroff J, DeDio A, Wade K, et al.

    Diabetes research and clinical practice 2022; (186()):109828 doi:10.1016/j.diabres.2022.109828.

    PMID: 35301072
  13. 13

    Predictors of loss of ambulation in Friedreich's ataxia.

    Rummey C, Farmer JM, Lynch DR

    EClinicalMedicine 2020; (18()):100213 doi:10.1016/j.eclinm.2019.11.006.

    PMID: 31938785
  14. 14

    Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.

    Pandolfo M

    Neurology. Genetics 2020; (6(3)):e415 doi:10.1212/NXG.0000000000000415.

    PMID: 32337342
  15. 15

    Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

    Lynch DR, Chin MP, Boesch S, et al.

    Movement disorders : official journal of the Movement Disorder Society 2023; (38(2)):313-320 doi:10.1002/mds.29286.

    PMID: 36444905
  16. 16

    Delayed-onset Friedreich's ataxia revisited.

    Lecocq C, Charles P, Azulay JP, et al.

    Movement disorders : official journal of the Movement Disorder Society 2016; (31(1)):62-9 doi:10.1002/mds.26382.

    PMID: 26388117
  17. 17

    Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia.

    Fearon C, Lonergan R, Ferguson D, et al.

    Practical neurology 2020; (20(1)):55-58 doi:10.1136/practneurol-2019-002368.

    PMID: 31467149
  18. 18

    Determining the Validity of Conducting Rating Scales in Friedreich Ataxia through Video.

    Tai G, Corben LA, Woodcock IR, et al.

    Movement disorders clinical practice 2021; (8(5)):688-693 doi:10.1002/mdc3.13204.

    PMID: 34307740
  19. 19

    An Overview of the Ferroptosis Hallmarks in Friedreich's Ataxia.

    Turchi R, Faraonio R, Lettieri-Barbato D, Aquilano K

    Biomolecules 2020; (10(11)) doi:10.3390/biom10111489.

    PMID: 33126466

This page provides educational information about the symptoms and multisystem impact of Friedreich Ataxia. Always consult your neurologist and broader care team to evaluate and manage your specific symptoms.

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