Voices of Friedreich's Ataxia (FA)

Genetic testing results in ~98% detection in symptomatic individuals. In rare cases, analysis of frataxin protein levels can be helpful

Onset of symptoms is typically after 20 years (range 20-60yrs; loss of coordination, ataxia). Progression is slower progression requiring assistance

Common problems in Friedreich’s ataxia are following Diabetes is present in 10-20% of patients and less than 65% have some

Many individuals with Friedreich’s ataxia have impaired auditory temporal processing resulting in significant hearing loss later in the disease course.

Eye movements/fixation abnormalities are common (square-wave jerks, ocular flutter) findings.Optic atrophy is present in about 10% of patients.

Hypertrophic cardiomyopathy can be progressive and severe, increasing morbidity and mortality. Dilated cardiomyopathy can develop in later disease. Clinically significant

Neurological Diagnosis of Friedreich’s ataxia is described below Loss of large sensory neurons (diminishing proprioception, balance, coordination and reflexes).Loss of

Frataxin is a kinetic activator of the mitochondrial supercomplex for iron-sulfur cluster assembly. With the aim of creating new molecular

The Signs & Symptoms of Friedreich’s Ataxia are:loss of coordination (ataxia) in the arms and legsfatigue – energy deprivation and