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

Özet

Objectives: This study aims to investigate the demographic and clinical features, and rehabilitation outcomes of Friedreich Ataxia patientsin the inpatient setting.Patients and methods: Between January 2000 and December 2012, a total of 37 Friedreich Ataxia patients (26 males, 11 females; mean age29.2±9.6 years; range, 16 to 53 years) were included in the study. Demographic and clinical features of the patients and rehabilitation outcomeswere reviewed retrospectively. Duration of rehabilitation, age at onset of disease, first onset of extremity, were determined. The FunctionalAmbulation Category (FAC) and Hoffer Ambulation Scale levels were used to assess the ambulation levels of patients. The Barthel Indexscores 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%) hadnystagmus of all patients. At the end of the rehabilitation program, all patients were discharged with functionally improved levels based onthe 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 dailyactivities in patients with Friedreich ataxia, which highlights the importance of rehabilitation in these patients.