Friedreich ataxia (FA)
Friedreich ataxia (FA) is a rare inherited progressive disease caused by a variation in the frataxin gene (FXN) resulting in a deficiency of frataxin, a protein that regulates the function of mitochondria in the cells.1 Clinical characteristics include progressive ataxia (a loss of muscle control and balance), spasticity (extreme muscle tightness and prolonged contractions), and cardiomyopathy (heart disease).2
In patients with FA, nerve fibers in the spinal cord and peripheral nerves degenerate, becoming thinner. Peripheral nerves carry information between the brain and body tissues, signaling the muscles to generate movement. The degeneration of these peripheral nerves results in ataxia, or the loss of muscle control and balance. Some patients with FA also experience chronic diseases of the heart muscles, skeletal deformities, and glucose intolerance.
The disorder does not affect the patient’s thinking and reasoning abilities (cognitive functions). Symptoms typically begin between the ages of 5 and 15 years, although they may appear even as late as after age 25. Cardiac dysfunction is the cause of death in 59% of FA patients with a mean age of death of 36.5 years.3
Not an actual patient
Community Support & Resources
Those who would like to learn more about FA may find it useful to visit the websites of patient organizations and other groups that provide support for the Rare Disease community. The links below provide access to several but not all of the organizations that serve patients and caregivers in this disease state. Astellas is not affiliated with and does not endorse any of the organizations listed below. The information provided by Astellas is for informational purposes only and is not meant to replace the advice of a healthcare professional.
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The National Ataxia Foundation (NAF) |
References:
1.Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci. Apr 15 2011;303(1-2):1-12.
2. Friedreich ataxia. 2022, at https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=95.); Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, Clinical Management Guidelines Writing G. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis 2014;9:184; Polek B, Roach MJ, Andrews WT, Ehling M, Salek S. Burden of Friedreich’s Ataxia to the Patients and Healthcare Systems in the United States and Canada. Front Pharmacol 2013;4:66.
3. Tsou AY, Paulsen EK, Lagedrost SJ, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307(1-2):46-49. doi:10.1016/j.jns.2011.05.023