David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.
Clinician'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 aids clinicians in the diagnostic process, monitoring expectations, and therapeutic interventions.
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.
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.
Latest News & Research
The virtual care company Synapticure has launched a new program to offer remote neurological care for people with Friedreich’s ataxia and other types of ataxia. According to a press release from Synapticure,…
Genetic mutations that cause Friedreich’s ataxia (FA) arise from a previously unrecognized category of FXN gene variants called a protomutation, according to a study. The protomutation was found exclusively in people of Eurasian descent…
Larimar Therapeutics has begun the process of asking the U.S. Food and Drug Administration (FDA) to grant accelerated approval to nomlabofusp, its protein replacement therapy for Friedreich’s ataxia (FA). Typically, drug developers seeking…
In this guide
Friedreich’s Ataxia: Diagnostic Criteria
How to determine whether a patient has FA, including genetic testing strategies.
Differential Diagnosis in Friedreich’s Ataxia
Friedreich’s ataxia can easily be misdiagnosed or delayed due to its clinical overlap with a range of other conditions. Here’s how to differentiate.
Clinical Manifestations in Friedreich’s Ataxia
FA is a multisystemic disease that leads to several comorbidities that may develop in patients as the disease progresses.
Cardiomyopathy in Friedreich’s Ataxia
Abnormalities in cardiac structure or function are common in FA, with nearly all patients developing some degree of cardiac abnormality at some point.
Therapeutic Interventions for Friedreich’s Ataxia
The management of FA often involves medications, orthopedic surgery, and supportive interventions.
Clinical Trials in Friedreich’s Ataxia
Experimental therapies for FA are being developed to increase FXN activity, replace the frataxin protein, or boost mitochondrial function.
Friedreich’s Ataxia as a Genetic Disease
FA is the most common hereditary cause of ataxia, resulting from autosomal recessive mutations in the FXN gene.
Friedreich’s Ataxia: Prevalence and Prognosis
Advances in FA management have improved the long-term outlook for patients.
Friedreich’s Ataxia Pathophysiology
FA is caused by mutations in the FXN gene that lead to a deficiency in the mitochondrial protein frataxin.
Friedreich’s ataxia multidisciplinary care
Friedreich’s ataxia requires coordinated multidisciplinary care from a team of specialists.
Emerging biomarkers for Friedreich’s ataxia
Research is underway to identify reliable, noninvasive biomarkers to monitor FA progression and therapeutic responses.
Neuroimaging in Friedreich’s ataxia
Neuroimaging can play a role in Friedreich’s ataxia (FA) diagnosis when the presentation is atypical.