Friedreich Ataxia Follow-up

Updated: May 04, 2021
  • Author: Jasvinder Chawla, MD, MBA; Chief Editor: Selim R Benbadis, MD  more...
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  • Health related quality of life (QOL) measures are potentially useful as clinical markers of disease status in Friedreich ataxia (FA).

  • The prognosis of FA is poor.

  • Cardiac dysfunction is the most frequent cause of death in almost two thirds of the patients, most commonly from congestive heart failure or arrhythmia. More research is needed to establish the clinical significance of hypertrophy in FA. [21]

  • No distinct interrelations between FA cardiomyopathy and neurological status could be determined; therefore, regular follow-up of potential cardiac involvement in FA patients is essential in clinical practice. [22]

  • The decrease of Cu may be important in consideration of the potential benefit of Cu supplements in FA cardiomyopathy.

  • The disorder is progressive, with a mean duration of 15-20 years.

  • More than 95% of patients are wheelchair bound by age 45 years.

  • Commonly, patients survive to 25-30 years of age, although some patients have survived into the sixth and seventh decades, especially if they are free of heart disease and diabetes.

  • QOL is significantly worse in these individuals compared with population norms. Those with severe disease did not perceive a lower QOL than those with mild or moderate disease except in their physical functioning. A later age of onset and increased disease severity were negatively associated with physical QOL, while increased disease duration was positively associated with mental QOL. [23]

  • Paulsen et al have revealed a significant relationship between markers of disease status and health-related QOL. The authors found that the children with Friedreich ataxia have a lower health-related QOL than those without a chronic disease. [24]