Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study.

OBJECTIVES

This study aims to investigate the demographic and clinical features, and rehabilitation outcomes of Friedreich Ataxia patients in the inpatient setting.

PATIENTS AND METHODS

Between January 2000 and December 2012, a total of 37 Friedreich Ataxia patients (26 males, 11 females; mean age 29.2±9.6 years; range, 16 to 53 years) were included in the study. Demographic and clinical features of the patients and rehabilitation outcomes were reviewed retrospectively. Duration of rehabilitation, age at onset of disease, first onset of extremity, were determined. The Functional Ambulation Category (FAC) and Hoffer Ambulation Scale levels were used to assess the ambulation levels of patients. The Barthel Index scores were used to assess daily living activities of the patients before and after the treatment.

RESULTS

The mean rehabilitation duration was 4.7±1.4 weeks. There was cardiac involvement in nine (24.3%) patients and obstructive/ restrictive pulmonary disease in five patients (13.5%). A total of 33 patients (89.2%) had severe ataxia, four (10.8%) had mild ataxia, 33 (89%) had dysarthria, 18 (48.6%) had scoliosis, 16 (43.2%) had kyphose, 15 (40.5%) had pes cavus, five (13%) had optic atrophy, and two (6%) had nystagmus of all patients. At the end of the rehabilitation program, all patients were discharged with functionally improved levels based on the FAC, Hoffer Ambulation Scale (p<0.05), and Barthel Index (p<0.001), indicating a statistically significant difference.

CONCLUSION

An appropriate and comprehensive rehabilitation program improves the ambulation level and independence level of daily activities in patients with Friedreich ataxia, which highlights the importance of rehabilitation in these patients.