Friedreich’s Ataxia Is Relentless, With Progressive Muscle Weakness, Fatigue, and Loss of Coordination Leading to Incapacitation1
Each patient with Friedreich’s ataxia (FA) is unique, but many of them can expect to progress along a similar neurodegenerative path. Most patients will need to use a wheelchair within 10 to 15 years of their first symptoms—for more serious cases, it can be as few as 3 years. The average age at which a patient with FA dies is just 37 years old.2,3
Early intervention with supportive therapies and nutritional guidance is recommended to help patients reduce the severity of bothersome symptoms and possibly maintain their independence longer.4
Sharper Rates of Decline Are Seen in Patients Who Develop Symptoms Earlier
A natural history study of FA progression demonstrates that patients who were diagnosed at an earlier age experience a more rapid loss of functional ability compared with older patients, as measured by the modified Friedreich’s Ataxia Rating Scale (mFARS) neurological exam.5
Patients may begin to lose functional abilities even before symptoms become apparent. By the time of diagnosis, many patients already lack deep tendon reflexes and are unable to perform certain standing tests.2,3
Average Progression By Age Over 1 year5
Patients With FA Suffer More Than Physical Problems
The burden of FA goes far beyond the nervous system, greatly impacting a patient’s mental health. Many patients with FA commonly report higher than average feelings of6:
Connecting your patients and their families to a broad, multidisciplinary disease management team, including a mental health professional, is essential.
Depression related to FA not only affects a patient’s mood, research shows it may also negatively influence their cognitive function and mental processing speed.6
Social isolation from peers is a major concern among patients with FA, who often express sadness and frustration that the progressive nature of their disease is so misunderstood.7
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References: 1. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-234. 2. Rummey C, Farmer JM, Lynch DR. Predictors of loss of ambulation in Friedreich’s ataxia. EClinical Medicine. 2020;18:1-9. 3. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(suppl 1):103-117. 4. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014;9(184):1-12. 5. Patel M, Isaacs CJ, Seyer L, et al. Progression of Friedreich ataxia: quantitative characterization over 5 years. Ann Clin Transl Neurol. 2016;3(9):684-694. 6. Nieto A, Hernández-Torres A, Pérez-Flores J, Montón F. Depressive symptoms in Friedreich ataxia. Int J Clin Health Psychol. 2018;18(1):18-26. 7. The Voice of the Patient. Friedreich’s ataxia. Friedreich’s Ataxia Research Alliance, Muscular Dystrophy Association, National Ataxia Foundation, and Cure FA Foundation. August 2017.
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