What is the management approach for Friedreich's ataxia?

Management Approach for Friedreich's Ataxia

Friedreich's ataxia requires a multidisciplinary management approach focusing on respiratory care, immunological support, nutritional management, and specialized physical therapy to improve quality of life and reduce mortality.

Multidisciplinary Care Framework

• Management should be coordinated through specialized multidisciplinary clinics that provide expertise for this rare multisystem disease 1
• Regular assessment by respiratory physicians is essential, as respiratory diseases are among the leading causes of death 1
• Treatment approaches are often extrapolated from more common disorders like cystic fibrosis due to similarities in respiratory complications 1

Respiratory Management

• Baseline spirometry should be performed in all patients old enough to complete the test, with regular assessments at least twice yearly to monitor disease progression 1
• Peak cough flow rate and forced vital capacity measurements are considered mainstays in clinical assessment 1
• Regular airway clearance techniques should be implemented and intensified during respiratory symptoms 1
• Consider nebulized hypertonic saline or inhaled mannitol as adjuncts to airway clearance in appropriate patients 1
• Overnight polysomnography should be performed in adolescents, particularly those with suspected sleep-related breathing abnormalities, rapid lung function decline, or developing scoliosis 1

Immunological Support

• Perform routine immunological investigations including total Ig levels, specific antibody responses, and immunophenotyping 1
• Administer all available immunizations against respiratory pathogens, including pneumococcal vaccines and annual influenza vaccine 1
• Implement early aggressive antibiotic treatment with airway clearance for respiratory infections 1
• Consider prophylactic antibiotics when respiratory infection burden is high or when bronchiectasis is established 1
• Immune replacement therapy should be considered for patients with hypogammaglobulinemia or specific antibody deficiency with recurrent infections 1
• Regular surveillance microbiology on respiratory samples with early aggressive treatment of identified pathogens 1

Nutritional Management

• Annual assessment of nutritional adequacy and swallowing safety 1
• Provide supplemental calories orally or enterally for those with worsening nutritional status 1
• Consider early gastrostomy placement for patients with unsafe swallow, inadequate nutrition, or when feeding disrupts daily activities 1
• Monitor for and address malnutrition, which is a significant comorbidity 1

Physical Therapy and Orthopedic Management

• Early and continued physiotherapy to mitigate contractures and scoliosis 1
• Chest wall bracing may be used as a temporary measure but can negatively impact vital capacity 1
• Spinal stabilization using surgical techniques should be considered for scoliosis, with timing determined by regular surveillance 1
• Comprehensive physical therapy should focus on valid performance measurements associated with disease progression 2

Cardiac Management

• Regular cardiac monitoring is essential as hypertrophic cardiomyopathy is common 3
• Management of cardiac involvement should focus on preventing disease progression and cardiovascular complications 3
• Symptomatic management of cardiac manifestations is currently the mainstay of treatment 3

Pharmacological Management

• Omaveloxolone (Skyclarys), an Nrf2 activator, is the only FDA-approved medication for Friedreich's ataxia 4
• Various symptomatic medications may be used to manage specific manifestations 4
• Consider corticosteroids for progressive diffuse lung disease that poorly responds to antibiotics, physiotherapy, and immunoglobulin replacement 1

Perioperative Management

• Disease-specific perioperative evaluation with optimization of pulmonary function 1
• Patients are at increased risk of aspiration and may require post-operative ventilatory support 1
• Monitor perioperative serum glucose as patients may have impaired insulin secretion, insulin resistance, or glucose intolerance 1
• Avoid succinylcholine as it may cause hyperkalemia in patients with significant neuropathy and muscle weakness 1

Special Considerations

• Increased radiosensitivity and cancer risk should be considered when requesting radiological investigations 1
• Genetic testing is crucial for accurate diagnosis, as clinical presentation can be variable 5
• Investigate non-infectious causes of lung disease, including interstitial lung disease and pulmonary fibrosis, in patients with progressive lung disease that responds poorly to standard treatments 1