Friedreich ataxia symptoms are progressive and irreversible

Christian, age 26
 |  
Diagnosed at age 9

Patients featured are paid spokespersons for Biogen.

Time is function for patients with Friedreich ataxia (FA)

While each person’s experience is unique, every patient with FA will experience neurodegeneration and symptoms will continue to progress over time, including potential loss of ambulation.1 Average life expectancy for someone with FA is 37.5 years.2

FA symptoms become apparent Falls, clumsiness, feeling unbalanced, loss of sensation, tiredness
Lower limb coordination continues to decline Mobility aids such as canes or walkers may become useful
Speech starts to sound slurred as bulbar function becomes more affected
Hands and arms become less coordinated
Many patients require the use of a wheelchair 10 to 15 years after onset of symptoms
Complications such as diabetes or cardiomyopathy may develop or worsen over time
Average life expectancy is 37.5 years although later-onset patients may live into their 70s and 80s. The most common cause of death for people with FA is cardiomyopathy
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Learn more about the early symptoms of FA

Think FA FIRST when symptoms emerge to shorten time to diagnosis

FA typically goes undiagnosed for several years after symptoms first appear, with patients diagnosed after age 20 remaining undiagnosed for an average of 8 years. Regardless of age, it is common for patients to see 4 or more doctors before a diagnosis is made.6

Average time to an FA diagnosis6
Average time to FA diagnosis chart
Average time to FA diagnosis chart

*P<0.05 determined by one-way analysis of variance (ANOVA), Dunn’s correction.

These downloadable resources may help when considering a diagnosis of FA

Tracking the progression of FA

The modified Friedreich Ataxia Rating Scale (mFARS) can provide a detailed evaluation of a patient’s disease progression.8

The assessment is scored on a scale of 0 to 93, with higher scores indicating more severe impairment. As FA progresses, a patient’s mFARS score will worsen (increase). The mFARS is made up of 4 sections focusing on a patient’s functional abilities.7,8

In clinical practice, HCPs should use the neurological assessment tool they feel is best for their patients.

Lower limb coordination8
Assessed function Example assessments and scoring Clinical extrapolations of possible effects on patient abilities
Coordination of legs and feet
  • Heel along shin slide
  • Heel-to-shin tap
16 points total
Closely related to upright stability; also an important contributor to decline in ambulatory patients.9 Affects activities like putting on socks and shoes.
Upright stability8
Assessed function Example assessments and scoring Clinical extrapolations of possible effects on patient abilities
Sitting, standing, and walking
  • Sitting posture
  • Stance
  • Gait
36 points total
Assessment of individual ambulatory ability. Affects activities like walking, sitting in a car, standing in a line, and showering.
Bulbar function8
Assessed function Example assessments and scoring Clinical extrapolations of possible effects on patient abilities
Speech clarity; strength and volume of coughing
  • Forceful cough
  • Speech
5 points total
Affects the ability to communicate clearly. Patients may also be at increased risk for respiratory infection.10

Typical mFARS progression by age group7,11,12

The Friedreich Ataxia Clinical Outcomes Measures Study (FA-COMS) is an ongoing natural history study that has enrolled more than 1250 patients who have been followed for up to 15 years. In FA-COMS, 812 patients were assessed annually over 5 years to determine the mean rate of FA progression.

†Noted ages are at baseline. 

More about mFARS

Watch these discussions about the clinical relevance of mFARS scores for patient mobility and independence.

mFARS overview
Bulbar Function
Lower Limb Coordination and Upright Stability
Upper Limb Coordination

Shorten the time to diagnosis by differentiating symptoms of FA

Learn more about differential diagnosis

References

1. Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich’s ataxia. EClinicalMedicine. 2020;18:1-9. 2. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(suppl 1):103-117. 3. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 4. National Organization of Rare Disorders. Friedreich's ataxia. Revised October 4, 2023. Accessed February 13, 2025. https://rarediseases.org/rare-diseases/friedreichs-ataxia/. 5. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-234. 6. Donoghue S, Martin A, Larkindale J, Farmer J. A meta-analysis study to evaluate time to diagnosis of Friedreich’s ataxia in the U.S. Friedreich’s Ataxia Research Alliance; 2018. 7. Patel M, Isaacs CJ, Seyer L, et al. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016;3(9):684-694. 8. Rummey C, Corben LA, Delatycki MB, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019;5(6):371. 9. Rummey C, Corben LA, Delatycki M, et al. Natural history of Friedreich ataxia: heterogeneity of neurologic progression and consequences for clinical trial design. Neurology. 2022;99(14):e1499-e1510. 10. Delatycki M, Corben L, Pandolfo M, Lynch D, Schulz J. Consensus Clinical Management Guidelines for Friedreich's Ataxia. Friedreich's Ataxia Research Alliance; 2014. 11. Lynch DR, Goldsberry A, Rummey C, et al. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data. Ann Clin Transl Neurol. 2024;11(1):4-16. 12. ClinicalTrials.gov. FA Clinical Outcome Measures (FA-COMS). Revised October 7, 2024. Accessed March 19, 2025. https://clinicaltrials.gov/study/NCT03090789.