Brigid Brennan of the Friedreich’s Ataxia Research Alliance (FARA) discusses the origins of this patient organization and its mission to focus on research about Friedreich’s ataxia. Some of the research FARA is funding includes a natural history study to better understand this rare disease.

Friedreich’s ataxia is a degenerative neuro-muscular disorder due to mutations in the FXN gene that reduces the production of frataxin, a protein important for proper mitochondrial functions.

The onset of symptoms varies greatly among patients but generally occurs between the ages of 5 to 18 years but can develop later in adulthood. Some the more common symptoms include ataxia, fatigue, scoliosis, diabetes mellitus, and various heart conditions, including hypertrophic cardiomyopathy and arrythmias. 

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