Practitioner’s Guide to Friedreich’s Ataxia
Friedreich’s ataxia (FA) is a rare neurodegenerative disease that affects roughly 1 in 40,000 people worldwide. This guide includes information for neurologists and other practitioners on various aspects of FA, including presenting symptoms, the diagnostic process, comorbidities, and therapeutic interventions, with the goal of helping to shorten the diagnostic odyssey for patients.
Clinical features of Friedreich’s ataxia
Freidreich's ataxia leads to progressive damage to the peripheral nerves in the spinal cord, driving cardinal neurological symptoms such as ataxia, muscle weakness, and sensory changes.
Read moreOur FA medical advisor
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.
In this guide
Determining whether a patient has FA consists of a variety of tests, including genetic testing, for a definitive diagnosis.
Patients with FA can be misdiagnosed or have a delayed diagnosis due to its clinical overlap with a range of other conditions.
FA is a multisystemic disease that leads to several comorbidities that may develop in patients as the disease progresses.
Abnormalities in cardiac structure or function are common in FA, with nearly all patients developing some degree of cardiac abnormality at some point.
The management of FA involves medications to manage symptoms and comorbidities, orthopedic surgery, and supportive interventions.
Experimental therapies for FA are being developed to increase FXN activity, replace the frataxin protein, or boost mitochondrial function.