Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.
• Males and females, age 12 to 50
• Willing and able to provide informed consent (adolescents will need to provide assent and a parent to provide consent)
• Definitive diagnosis of FRDA, based on clinical phenotype and genotype
• Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will not be required to perform the CPET)
• Males and females, age 12 to 30
• Willing and able to provide informed consent (Adolescents will need to provide assent and a parent to provide consent)
• Matched age, gender and ethnicity to the FRDA group
• Capable of undergoing the various modalities of cardiac assessment
• Left ventricle ejection fraction measured by ECHO of \>35% (If results of an ECHO are not available for a potential subject, then an ECHO will first be performed and subjects with an LVEF \<35% will be withdrawn from the study)