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18 | InTouch AUTUMN 2024 Continued ... specialist to monitor for scoliosis. This is particularly important during adolescence when there is a period of rapid growth. Bracing may be helpful in avoiding or delaying the need for surgical correction of scoliosis. Surgery is usually reserved for severe cases of scoliosis in which mobility is hindered or lung capacity is reduced due to restriction of the thoracic cavity. Orthopaedic specialists or physiotherapists can also monitor the development of foot deformities and the need for orthotics. Surgery is only recommended if it would facilitate mobility or transfers. Individuals with advanced FA should be monitored for restrictive lung disease and sleep-disordered breathing, symptoms of which may include shortness of breath, poor sleep, morning headache, decreased concentration and attention, fatigue, and recurrent chest infections. The use of non-invasive night-time ventilatory support (such as CPAP) can result in improved daytime fatigue and sleepiness in those with sleep-disordered breathing. Fatigue can interfere significantly with quality of life, though it is commonly underreported as it may be difficult for individuals with FA to identify that they suffer from fatigue. It is important for family members and caregivers to frequently inquire about the impact of fatigue on participation in daily activities. Behavioural management (mindfulness, energy conservation, stress reduction, relaxation, avoiding multitasking) and a personalized physical activity programme can be useful in reducing fatigue in individuals with FA. Some pharmacological interventions, such as antioxidants or antidepressants, may have value in managing fatigue as well. Genetic counselling is very important when considering genetic testing. At-risk siblings may choose not to be tested, but some experts recommend that they should have an echocardiogram to identify any cardiac disease that may require intervention. Friedreich Ataxia research Current research of emerging therapies for Friedreich Ataxia is largely focused on increasing frataxin production, improving mitochondrial function, reducing oxidative stress, and managing symptoms. Gene therapy is an especially exciting area of research at this time. A number of genetic disorders are due to triplet repeat expansion problems. Thus, discoveries in this area have wide implications for the treatment of many diseases. Trials are ongoing to determine if frataxin replacement via a recombinant fusion protein designed for delivery to mitochondria via a subcutaneous injection is feasible and effective. Omaveloxolone – approved in the US since Feb 2023 – is a powerful antioxidant which is believed to reduce oxidative stress and appears to slow down the course of disease. An ongoing extension study is following patients who took part in the initial study to help scientists FRIEDREICH ATAXIA better understand the magnitude of the effect over a longer period of time. While this is not yet available in New Zealand or Australia, it is a hopeful sign that research is thriving in this area and more advances can be expected in the near future. These are just two examples of the numerous research studies currently being conducted to improve the lives of people living with Friedreich ataxia. Further information can be found via the resources below. Support The Muscular Dystrophy Association of New Zealand can be contacted for further information, assistance, advice, support, and referrals, on 0800 800 337 or by email at info@mda.org.nz . There is also a nationwide Support Network for those interested in meeting with others. At-risk siblings may choose not to be tested, but some experts recommend that they should have an echocardiogram to identify any cardiac disease that may require intervention. Information in this fact sheet was primarily sourced from: Corben LA, Collins V, Milne S, et al. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases. Orphanet J Rare Dis 17, 415 (2022). https://doi.org/10.1186/s13023- 022-02568-3 Opal P and Zoghbi HY. Friedreich ataxia. [Updated: 2023 Dec 11]. In: UpToDate. Post TW (Ed),Wolters Kluwer. https://www. uptodate.com (Accessed on 4 Feb 2024.) Williams CT, De Jesus O. Friedreich Ataxia. [Updated 2023 Aug 23]. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2024 Jan. Available from: https://www. ncbi.nlm.nih.gov/books/NBK563199/