DISEASE SCANNER
Global Incurable Diseases Tracker
Friedreich Ataxia
The most common inherited ataxia, caused by GAA triplet repeat expansion in FXN gene. Progressive gait ataxia, sensory neuropathy, cardiomyopathy, and diabetes. Autosomal recessive. Onset typically adolescence.
80.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Progressive neuromuscular degeneration. Loss of ambulation 10-15 years after onset. Cardiomyopathy in 60%. Death typically 35-50 years from cardiac failure or aspiration.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Omaveloxolone (Nrf2 activator) FDA-approved 2023 - first disease-modifying therapy. Supportive care for complications. Idebenone for cardiac symptoms. Physical and occupational therapy. Mean age of death ~35 years (often cardiac).
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.