What it is
Friedreich ataxia is an inherited condition caused by a repeat expansion in the FXN gene. It mainly affects coordination, the nerves, and the heart, and worsens over time.
Signs and symptoms
Pes cavus
A high-arched foot (pes cavus) is often present by the time of diagnosis.
Limb ataxia
Worsening unsteadiness of the limbs and walking (ataxia), along with loss of sensation, is the core neurological feature.
Cardiomyopathy
Disease of the heart muscle (cardiomyopathy) is a common and important feature that needs monitoring.
Spasticity
Muscle stiffness (spasticity) can develop as the condition progresses.
Scoliosis
A sideways curve of the spine (scoliosis) often develops, especially in younger people.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Omaveloxolone
Omaveloxolone is a medicine approved for Friedreich ataxia and is the first disease-targeted treatment available for it.
Used to help with: Friedreich ataxia.
“One year after heart transplantation, omaveloxolone treatment was initiated.”
Turn this into questions for your doctor
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How to read the evidence labels
Where this comes from
This guide is built from 2 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.