From the Guidelines
Friedreich ataxia is a rare genetic neurodegenerative disorder that requires comprehensive management to mitigate its progressive effects on the nervous system, heart, and other systems, with a focus on managing symptoms and complications to improve quality of life and reduce morbidity and mortality. The disorder is characterized by progressive damage to the nervous system, resulting in movement problems, heart disease, and diabetes, and is caused by mutations in the FXN gene, which leads to reduced production of frataxin protein essential for proper mitochondrial function 1. Symptoms typically begin between ages 5-15 and include progressive difficulty walking, impaired coordination, slurred speech, muscle weakness, vision and hearing problems, and heart complications like cardiomyopathy.
Management of Friedreich Ataxia
To manage Friedreich ataxia, a multidisciplinary approach is necessary, including:
- Physical therapy to maintain mobility and function
- Occupational therapy to assist with daily activities
- Speech therapy to address speech and swallowing difficulties
- Cardiac medications, such as ACE inhibitors, beta-blockers, or antiarrhythmics, depending on specific cardiac issues, as cardiac disease is the most life-threatening manifestation of FA 1
- Regular cardiac monitoring is essential to prevent and manage cardiac complications
- For diabetes management, standard treatments including insulin or oral medications may be necessary
- Some patients may benefit from antioxidants like idebenone or coenzyme Q10, though evidence for their effectiveness varies
Importance of Regular Follow-up
Regular follow-up with neurologists, cardiologists, and other specialists is crucial for comprehensive care, as the disease is progressive, and the rate varies among individuals, with most patients requiring wheelchairs within 10-20 years of diagnosis and experiencing a somewhat reduced life expectancy primarily due to cardiac complications 1. Early diagnosis and intervention can significantly improve quality of life and reduce morbidity and mortality in patients with Friedreich ataxia.
From the Research
Definition and Prevalence of Friedreich Ataxia
- Friedreich ataxia is the most prevalent inherited ataxia, affecting 1 in 50,000-100,000 people in the United States 2.
- It is a multisystem disorder that affects not only the nervous system but also the heart, leading to cardiomyopathy, and can cause other manifestations such as scoliosis, diabetes, vision loss, hearing loss, urinary dysfunction, and depression 2.
Clinical Features and Pathogenesis
- The disease is characterized by a progressive course resulting in severe disability 3.
- The pathogenesis of Friedreich ataxia involves genetic and epigenetic mechanisms that offer promising novel therapeutic targets 4.
- The search for effective disease-modifying agents continues, with a focus on increasing frataxin protein levels or addressing the metabolic consequences of the disease 4.
Management and Treatment
- Management of Friedreich ataxia is currently focused on symptomatic management, delivered by a multidisciplinary team 4.
- Occupational therapy (OT) can contribute to limiting the progression of disability and maintaining participation in everyday activities 3.
- Physical therapy interventions, such as stretching and strengthening exercises, can be perceived as useful by parents of children with Friedreich ataxia 5.
- Barriers to physical therapy services include a lack of expert providers, limited reimbursement, and internal barriers such as limited time and energy 5.
Future Directions
- Many agents are reaching Phase III trials, which may provide new treatments for Friedreich ataxia 2.
- There is a need for further research, education, and effective interventions for children with Friedreich ataxia 5.
- A comprehensive physical therapist examination emphasizing valid and reliable performance measurements associated with disease progression can help identify individuals with Friedreich ataxia and characterize their impairments and functional limitations 6.