What is it?
Friedreich's Ataxia (FRDA) is a rare genetic disease characterized by loss of coordination and muscle strength resulting from the degeneration of nerve tissue in the spinal cord and damage of the peripheral nerves that control muscle movement. Symptoms range from the inability to coordinate movements to gait instability with imbalance, muscle weakness and tremors. Patients lose their ability to stand, sit and walk within 10 – 15 years of onset. FRDA reduces life expectancy and becomes fatal, mainly due to cardiac failure. Friedreich's Ataxia is caused by a genetic defect which affects male and female children and is inherited as a recessive trait. Deficient expression of the mitochondrial protein, frataxin, is the primary cause of FRDA, which leads to adverse alterations in whole cell and mitochondrial iron metabolism causing iron accumulation, mitochondrial dysfunction and oxidative damage. Therefore, the maintenance of mitochondrial homeostasis is crucial in the progression of neuro-degenerative conditions, particularly in FRDA. It affects approximately 1 in 40,000 people. There is currently no known cure available and patients manage their disease with symptomatic treatment only.
- Orphan neurodegenerative mitochondrial diseaseGAA repeats in the frataxin gene1/40,000 birthsReduced frataxin levels leading to mitochondrial dysfunctionMain symptoms: Ataxia, Cardiomyopathy Diabetes mellitusEarly-intermediate onset between 5 and 24 years of age