The patient is a 42-year-old, right-handed Caucasian female, followed for 20 years with progressive imbalance, lower extremity weakness, scoliosis, foot deformities, and bladder dysfunction.
Videos: Rare Takes
In this video series, Friedreich’s ataxia experts discuss important topics related to diagnosing, managing, and treating the disease, from the importance of early diagnosis to collaboration with patients, families, and other providers.
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In this Guide
FA is caused by mutations in the FXN gene that leads to deficiency in the mitochondrial protein frataxin. What to know about progression and prognosis.
An FA diagnosis is often reached through a comprehensive physical and neurological exam and confirmed via genetic testing.
FA can overlap with peripheral neuropathies, inherited ataxias, and other neurological conditions. What to look for.
Friedreich’s ataxia is the most common hereditary cause of ataxia, resulting from autosomal recessive mutations in the FXN gene.
Neuroimaging can play a role in Friedreich’s ataxia (FA) diagnosis when the presentation is atypical.
Additional FA symptoms may include cardiac disease, diabetes, difficulties with urination, and mental health challenges.
Nearly all patients with FA will develop some degree of cardiac abnormality. Here's how to manage it.
Therapeutic intervention for FA includes medication and supportive therapies.
Various clinicians can play a role in treatment optimization.
What to know about the growing FA drug pipeline and treatment targets.
Advances in management have improved the long-term outlook for patients with Friedreich's ataxia.
Several treatment targets are being tested to optimize FA care. How to guide patients.