The condition typically manifests in childhood or adolescence, with initial symptoms including difficulty walking, loss of balance, and poor coordination.

Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients.

Friedreich's ataxia is caused by mutations in the FXN gene, which result in reduced production of frataxin, a protein essential for mitochondrial function, particularly in iron-sulfur cluster biogenesis.

The deficiency of frataxin disrupts cellular energy production and leads to oxidative stress, contributing to the neurological and systemic symptoms associated with the disorder.

This medication works by reducing oxidative stress and inflammation in neurons, which helps improve motor function in some patients.

Ongoing research continues to explore potential therapies aimed at increasing frataxin levels, protecting mitochondria, and addressing the genetic cause of the disease.

Although life expectancy may be reduced, particularly due to cardiac complications, advancements in care and treatment have improved outcomes for many individuals with Friedreich's ataxia.

All individuals with FRDA develop neurological symptoms, including dysarthria and loss of lower limb reflexes, and more than 90% present with ataxia.

[1] Other later stage symptoms can include, cerebellar effects such as nystagmus, fast saccadic eye movements, dysmetria and loss of coordination (truncal ataxia, and stomping gait).

[1] FRDA is an autosomal-recessive disorder that affects a gene (FXN) on chromosome 9, which produces an important protein called frataxin.

[17] Frataxin assists iron-sulfur protein synthesis in the electron transport chain to generate adenosine triphosphate, the energy molecule necessary to carry out metabolic functions in cells.

It also regulates iron transfer in the mitochondria by providing a proper amount of reactive oxygen species (ROS) to maintain normal processes.

[18] One result of frataxin deficiency is mitochondrial iron overload, which damages many proteins due to effects on cellular metabolism.

[19] Without frataxin, the energy in the mitochondria falls, and excess iron creates extra ROS, leading to further cell damage.

[18] Low frataxin levels lead to insufficient biosynthesis of iron–sulfur clusters that are required for mitochondrial electron transport and assembly of functional aconitase and iron dysmetabolism of the entire cell.

[24] These guidelines are intended to assist qualified healthcare professionals in making informed treatment decisions about the care of individuals with Friedreich ataxia.

[27] Physical therapists play a critical role in educating on correct posture, muscle use, and the identification and avoidance of features that aggravate spasticities such as tight clothing, poorly adjusted wheelchairs, pain, and infection.

[33] Physical therapy typically includes intensive motor coordination, balance, and stabilization training to preserve gains.

[36][37] Cardiac abnormalities can be controlled with ACE inhibitors such as enalapril, ramipril, lisinopril, or trandolapril, sometimes used in conjunction with beta blockers.

Affected people who also have symptomatic congestive heart failure may be prescribed eplerenone or digoxin to keep cardiac abnormalities under control.

FRDA and Haplogroup R1b are more common in northern Spain, Ireland, and France, rare in Russia and Scandinavia, and follow a gradient through central and eastern Europe.

[51] The Ataxian is a documentary that tells the story of Kyle Bryant, an athlete with FRDA who completes a long-distance bike race in an adaptive "trike" to raise money for research.

[54] Shobhika Kalra is an activist with FRDA who helped build over 1000 wheelchair ramps across the United Arab Emirates in 2018 to try to make Dubai fully wheelchair-friendly by 2020.

In 2019, Reata Pharmaceuticals reported positive results in a phase 2 trial of RTA 408 (Omaveloxolone or Omav) to target activation of a transcriptional factor, Nrf2.