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.
Case study: Female patient with progressive imbalance and muscle weakness
The patient is a 42-year-old, right-handed Caucasian female, followed for 20 years with slowly progressive imbalance, lower extremity weakness, scoliosis, foot deformities, and bladder dysfunction.
Read moreOur FA medical advisor
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.
FA Bits
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.
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.
FA is the most common hereditary cause of ataxia, resulting from autosomal recessive mutations in the FXN gene.
Advances in FA management have improved the long-term outlook for FA patients.