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Friedreich ataxia

Friedreich ataxia is the most frequent of inherited ataxias. It is caused by the impaired transcription of the FXN gene, which results in insufficient levels of the protein frataxin. This causes mitochondrial impairment and neuronal degeneration, particularly in the dorsal root ganglia.

The disease progressively leads to severe disability up to premature death often caused by cardiac insufficiency. Symptoms usually appear late in the first decade or early in the second decade of life, and include gait instability and lack of coordination, eventually requiring constant support and wheelchair use.

Dysarthria may occur early in the disease and may progress to complete speech impairment. Congestive heart failure and fatal arrhythmia dominate the cardiac picture. A significant fraction of patients also develops diabetes mellitus.

Over 35,000 patients are affected by Friedreich ataxia in the Americas and EU only.

There is no approved cure for Friedreich ataxia yet.

Due to its relative low prevalence (about 1:50,000 individuals) Friedreich ataxia received Orphan Disease Designations by both the FDA and the EMA.

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