Turkish Journal of Physical Medicine and Rehabilitation 2003 , Vol 49 , Num 1

Friedreich Ataksili Hastaların Genel Özellikleri ve Rehabilitasyon Sonuçları: Retrospektif Bir Çalışma

Deniz Dülgeroğlu Erdoğdu 1 ,Aydan Kurtaran 2 ,Gülten Erkin 3 ,Kurtuluş Kaya 4 ,Canan Aybay 5
1 Ankara Fizik Tedavi ve Rehabilitasyon Eğitim ve Araştırma Hastanesi, Ankara, Türkiye
2 Ankara Fizik Tedavi ve Rehabilitasyon Eğitim ve Araştırma Hastanesi, Ankara
3 Tatvan Devlet Hastanesi, Fizik Tedavi ve Rehabilitasyon Kliniği, Bitlis, Türkiye
4 Ankara Fizik Tedavi ve Rehabilitasyon Eğitim ve Arafltırma Hastanesi, 3. FTR Kliniği, Ankara, Türkiye

Patients with Friedreich’s ataxia (FA) usually present in early adolescence with an ataxic gait. Occasionally they present with scoliosis or a foot deformity. We carried out a retrospective study of 30 patients and presented demographic, genetic, clinical features and the results of rehabilitation. The functional levels of the patients on admission and discharge from hospital were classified according to Hoffer’s criteria. Twentyone patients were male and 9 female. Male patients had an average age of 23.09±9.21 years (range 9-47 years), female patients were 21.33±5.52 years old (range 12-29 years). The mean duration of rehabilitation was 37.17±16.16(10-70)  days. The main presenting symptom was ataxia (100%). Clinically, 20 patients (56.6%) had dysarthria, nystagmus in 10 (%33.3), scoliosis in 17 (56.6%), pes cavus in 17 (56.6%). After rehabilitation intervention 3 patients were level 1 (ambulator), 3 patients level 2 (household ambulator), as a result funtional levels of 6 patients were changed. We conclude that ataxia was the first symptom and orthopeadic deformities were often ın this study. Although rehabilitation intervention doesn’t change the natural progression of the disease, it is partly beneficial to improve quality of ambulation.

Keywords : Friedreich’s ataxia, rehabilitation.