Signs and symptoms of Friedreich ataxia can be variable in onset and severity

Christian, age 26
  |
Diagnosed at age 9
Patients featured are paid spokespersons for Biogen.

Patient age of onset strongly correlates with disease severity1

Signs of Friedreich ataxia (FA) typically appear between the ages of 10 and 15 years, but symptoms can emerge at nearly any age.2 Here are some differences related to age of onset1:

  • Younger patients often have more rapid disease progression
  • Patients with later-onset FA may not require a wheelchair
  • Every patient with FA will see a progressive loss of physical ability, but earlier age of onset is associated with more severe symptoms
Age at diagnosis chart
Age at diagnosis chart

When you see any combination of these symptoms, think FA FIRST2,4-6

Falling icon
F

Falls (gait ataxia)

  • Clumsiness, dizziness, or trouble playing sports
  • Ataxia can also result in difficulty with handwriting, getting dressed, or carrying items
Imbalance icon
I

Imbalance (poor proprioception)

  • Inability to walk steadily
  • Dependence on walking aids (furniture, walls, people, crutches, canes, walkers)
Reflex loss icon
R

Reflex Loss (areflexia)

  • Absence of deep tendon response
  • Loss of reflexes in lower limbs is present in almost all patients
  • In some cases, spasticity or hyperreflexia in lower limbs leading to pain, discomfort, positioning problems, and contractures
Neuron icon
S

Sensation Loss (neuropathy)

  • Inability to sense vibration and joint position
  • Estimates of vibrational sensation loss vary from 73% to 88%
Tiredness icon
T

Tiredness (fatigue)

  • Exhaustion with regular or extended physical activity
  • Weakness becomes more severe in the later stages of FA

Additional signs that may be present throughout the course of the disease:

Cardiomyopathy may be present in younger patients with more severe FA2

Loss of bulbar function may result in patients’ speech sounding slurred and swallowing becoming more difficult2,7

Scoliosis may be an initial indicator of FA when you also see imbalance or other neurological signs2

Late-onset FA (LOFA) and very late-onset FA (VLOFA)8-10

Patients with LOFA begin experiencing symptoms after 25 years of age and those with VLOFA experience symptoms after 40 years of age. Patients with LOFA and VLOFA may have atypical symptoms:

Spasticity
Retained reflexes
Severe optic atrophy
Chorea

Genetic testing can confirm a diagnosis of FA—even when nonspecific or atypical symptoms are present11

Learn more about genetic testing

Measuring FA progression7,12

While there are many scales used to measure progressive neurological decline, the modified Friedreich Ataxia Rating Scale (mFARS) is a clinically validated neurological assessment that provides an evaluation of a patient’s status and is generally accepted as a clinical trial endpoint. As FA progresses, a patient’s mFARS score will worsen (increase). 

Learn more about mFARS
fa symptoms tricia
fa symptoms tricia

Tricia, age 44
Diagnosed at age 29

References

1. 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. 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. 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. 4. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 5. National Organization of Rare Disorders. Friedreich's ataxia. Revised October 4, 2023. Accessed February 13, 2025. https://rarediseases.org/rare-diseases/friedreichs-ataxia. 6. 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. 7. Rummey C, Corben LA, Delatycki MB, et al. Psychometric properties of the Friedreich Ataxia Rating Scale. Neurol Genet. 2019;5(6):371. 8. Cook A, Giunti P. Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull. 2017;124(1):19-30. 9. Indelicato E, Nachbauer W, Eigentler A, et al; EFACTS (European Friedreich's Ataxia Consortium for Translational Studies). Onset features and time to diagnosis in Friedreich’s ataxia. Orphanet J Rare Dis. 2020;15(1):198. 10. Lynch DR, Farmer JM, Balcer LJ, Wilson RB. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol. 2002;59(5):743-747. 11. Williams CT, De Jesus O. Friedreich ataxia. National Center for Biotechnology Information Bookshelf. Revised August 23, 2023. Accessed December 15, 2024. https://www.ncbi.nlm.nih.gov/books/NBK563199. 12. 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.