Diagnostic Delay and Clinical Features in Friedreich’s Ataxia Friedreich Ataksisinde Tanı Gecikmesi ve Klinik Özellikler

Creative Commons License

YETKİN M. F., Gültekin M., Akcakoyunlu M., BAYDEMİR R., SARILAR A. Ç., CANPOLAT M., ...More

Turk Noroloji Dergisi, vol.28, no.2, pp.97-101, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.4274/tnd.2022.26780
  • Journal Name: Turk Noroloji Dergisi
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.97-101
  • Keywords: Friedreich's ataxia, diagnostic delay, hereditary ataxia, INTERFERON-GAMMA
  • Kayseri University Affiliated: No


© 2022 by Turkish Neurological Society.Objective: Friedreich ataxia (FRDA) is the most frequent hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, sensory loss, and muscular weakness. Due to insufficient awareness of patients and their relatives, poor knowledge of healthcare professionals, and difficulty in accessing diagnostic tests, delay in diagnosis is seen in many diseases, especially in rare diseases. In this study, the diagnostic delay, and clinical features of individuals with FRDA were investigated. Materials and Methods: Individuals who fulfilled the criteria for Harding clinical diagnosis and who had increased GAA repetition in the genetic examination were included in the study. Demographic and clinical data of the patients such as initial symptoms, age at symptom onset, time from the onset of symptoms to the diagnosis, and comorbid conditions were recorded. In addition, detailed neurological examinations of the patients were made, and they were evaluated with the scale for the assessment and rating of ataxia (SARA). Results: A total of 22 patients, 12 males, and 10 females, were included in the study. The mean age of the individuals was 30.4±6.3 (19-41). Age of symptom onset was 19±5.6 (9-32), age at diagnosis was 22.1±6.1 (13-33), and the time from onset of symptoms to diagnosis was 3.03±2.66 (0.2-9) years. While the first symptom of 19 patients (86.4%) was trunk ataxia, the first symptom of 3 patients (13.6%) was extremity ataxia. Eight (36.4%) patients were non-ambulatory and 14 (63.6%) were ambulatory. The mean total SARA score was 18.2±6.7 [median 19.5 (7-30)]. Conclusion: This study is the first study to evaluate the diagnosis delay in patients with FRDA in our country. Although FRDA was the most common hereditary ataxia, in our study, it was shown that there was a significant delay in diagnosis in patients with FRDA. There is a need for studies that will raise awareness of public and health professionals about FRDA.