CMDT2024 Friedreich's ataxia.#ataxialive #ataxiaaustintheory #ataxiatelangiectasia

Friedreich's ataxia (FA) is a rare, inherited degenerative disease that affects the nervous system and the heart. It is caused by mutations in the FXN gene, which encodes a protein called frataxin. This protein is crucial for mitochondrial function, particularly in energy production and iron homeostasis. #medicine Key Features: 1. Neurological Symptoms Progressive ataxia loss of coordination and balance Muscle weakness Sensory loss difficulty feeling vibrations or position Scoliosis curvature of the spine 2. **Cardiac Issues**: Hypertrophic cardiomyopathy thickening of the heart muscle Arrhythmias irregular heartbeats 3. **Diabetes**: Some individuals may develop diabetes mellitus. 4. **Vision and Hearing**: Some patients may experience vision or hearing impairments. Diagnosis: FA is typically diagnosed through clinical evaluation, family history, and genetic testing to identify mutations in the FXN gene. MRI scans may show changes in the spinal cord and brain. Treatment: Currently, there is no cure for Friedreich's ataxia. Management focuses on alleviating symptoms and improving quality of life, which may include: Physical therapy Occupational therapy Speech therapy Medications for managing symptoms (e.g., muscle spasticity) Prognosis: The progression of FA varies among individuals, but it generally leads to significant disability over time. Most affected individuals eventually require assistance with daily activities. Research is ongoing to explore potential therapies, including gene therapy and treatments aimed at improving mitochondrial function.