Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:
- Difficulty walking
- Muscle weakness
- Speech problems
- Involuntary eye movements
- Scoliosis (curving of the spine to one side)
- Heart palpitations, from the heart disease which can happen along with Friedreich ataxia
People with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.
NIH: National Institute of Neurological Disorders and Stroke
Diagnosis and Tests
- Electromyography (EMG) and Nerve Conduction Studies (National Library of Medicine) Also in Spanish
- Friedreich's Ataxia (FA): Diagnosis (Muscular Dystrophy Association)
- Magnetic Resonance, Functional (fMRI) -- Brain (American College of Radiology; Radiological Society of North America) Also in Spanish
- Ataxias and Cerebellar or Spinocerebellar Degeneration (National Institute of Neurological Disorders and Stroke) Also in Spanish
- Friedreich ataxia: MedlinePlus Genetics (National Library of Medicine)
- ClinicalTrials.gov: Friedreich Ataxia (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR...
- Article: The smoothened agonist SAG reduces mitochondrial dysfunction and neurotoxicity of frataxin-deficient...
- Article: Modelling Protein Plasticity: The Example of Frataxin and Its Variants.
- Friedreich Ataxia -- see more articles