• Genetic neurodegenerative movement disorder that leads to the degeneration of sensory nerve fibers that communicate with cerebellum

  • Due to mutations in the FXN gene, which codes for a protein (frataxin) required for proper mitochondrial functioning

    • Inherited in an autosomal recessive manner; both FXN genes are abnormal

      • People who inherit only a single copy of the mutation from one of their parents is a carrier​ ​

• ​Affects​ an estimated 1 in 40,0000 people

  • Most common inherited ataxia in Europe, the Middle East, South Asia, and North Africa​

• ​Symptoms​ usually appear between 10-15 years old​; most people are diagnosed before age 25

  • Unsteady gait, difficulty walking, and frequent falls
  • Posture complications and scoliosis​

  • Slurred speech

  • Difficulty swallowing

  • Foot abnormalities

  • More!

    • Often associated with cardiomyopathy and diabetes mellitus

• There is no cure for FRDA

• Treatments are supportive and depend on the patient's signs and symptoms

  • Mobility aids (cane, wheelchair, prostheses)​

  • Vision and hearing aids

  • Speech therapy

  • Orthopedic surgery

  • Medications to treat heart complications and diabetes mellitus

 
Sources

NORD
​National Ataxia Foundation